ENTREP2 p.His375Arg
c.1124_1125delinsGC · rs34232112 · VCV982075
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.7 | GERP -2.4 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 447 kb · p 0.2 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ENTREP2
- Protein
- p.His375Arg
- Coding
- c.1124_1125delinsGC
- MANE Select
- NM_015307
- dbSNP
- rs34232112
- Type
- Indel
- Location
- chr15:29126370 (GRCh38)
- Structure
- AlphaFold pLDDT 59.09
- Residue 375
- a UniProt-annotated variant site (in); the 'disordered' region
Similar variants
- NSMCE3 p.Gln14Pro Uncertain significance ★★ same type
- NSMCE3 p.Ala285fs 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/entrep2-p-his375arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown