G2S (p.Gly2Ser) variant of ERCC3 (P19447)
G2S (p.Gly2Ser) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- cosmic curated COSV10639
- TOPMed rs1685381866
- gnomAD rs1685381866
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- ESM-1b 0.12
- AlphaMissense 0.15
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available