Is CD300LD p.Glu95= (c.285G>A) pathogenic?

CD300LD p.Glu95= (c.285G>A) is classified Likely benign in CD300LD (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-01). Absent from gnomAD v4.1.

How common is CD300LD p.Glu95= (c.285G>A) in the general population?

CD300LD p.Glu95= (c.285G>A) is absent from gnomAD v4.1 (gnomAD).

CD300LD p.Glu95=

c.285G>A · rs2509582343 · VCV2648225

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.057	GERP 2
Overall
CADD	4.731	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CD300LD
Protein: p.Glu95=
Coding: c.285G>A
MANE Select: NM_001115152
dbSNP: rs2509582343
Type: single nucleotide variant
Location: chr17:74588605 (GRCh38)
Gene constraint: LOEUF 1.278 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.81
Residue 95: the ig-like v-type domain; a disulfide bond

Full CD300LD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CD300LD-AS1 n.693C>T Uncertain significance ★ same type
CD300LD p.Ala148Val Uncertain significance ★ ⚠ same type
CD300LD p.Ala18Val Uncertain significance ★ ⚠ same type
CD300LD p.Ala56Gly Uncertain significance ★ ⚠ same type
CD300LD p.Ala56Thr Uncertain significance ★ ⚠ same type
CD300LD p.Arg193Lys Uncertain significance ★ ⚠ same type
CD300LD p.Arg52Gln Uncertain significance ★ ⚠ same type
CD300LD p.Asp57Asn Uncertain significance ★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cd300ld-p-glu95 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown