G82D (p.Gly82Asp) variant of ERCC3 (P19447)
G82D (p.Gly82Asp) in ERCC3 (P19447) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
G82D (p.Gly82Asp) variant details
- p.Gly82Asp
- rs1246605943
- NCI-TCGA Cosmic COSV9957
- cosmic curated COSV99573
- gnomAD rs1246605943
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available