G2D (p.Gly2Asp) variant of ERCC3 (P19447)
G2D (p.Gly2Asp) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- rs866954274
- ClinGen CA55344414
- cosmic curated COSV10639
- ClinVar RCV001971666
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available