CALD1 p.Asp92Val
c.275A>T · VCV3826917
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.342 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| AlphaMissense | 0.342 | ambiguous |
|---|---|---|
| REVEL | 0.434 | indeterminate |
| SaProt | LLR -11.94 | damaging |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2, phastCons 1 |
| Regional constraint | o/e 0.72 | unconstrained · MANE · 65 kb · p 0.00033 · regional, not allelic |
| Overall | ||
| CADD | 25.2 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- CALD1
- Protein
- p.Asp92Val
- Coding
- c.275A>T
- MANE Select
- NM_033138
- Type
- single nucleotide variant
- Location
- chr7:134933044 (GRCh38)
- Gene constraint
- LOEUF 0.498 · pLI 0.96 (gnomAD)
- Structure
- AlphaFold pLDDT 65.68
- Residue 92
- the 'myosin and calmodulin-binding' region; the 'disordered' region
Similar variants
- CALD1 p.Asp92His Uncertain significance ★ ⚠ same residue
- CALD1 p.Ala324Glu Benign ★★ ⚠ same type
- CALD1 p.Asp122Asn Likely benign ★★ ⚠ same type
- CALD1 p.Glu77Lys Benign ★★ ⚠ same type
- CALD1 p.Ile671Val Benign ★★ same type
- CALD1 p.Met257Ile Likely benign ★★ same type
- CALD1 p.Ser171Phe Benign ★★ ⚠ same type
- CALD1 p.Ala265Thr 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/cald1-p-asp92val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown