G20V (p.Gly20Val) variant of POLD1 (P28340)
G20V (p.Gly20Val) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer, susceptibility to, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- rs778329225
- ClinGen CA406970058
- ClinVar RCV003050100
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.23
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available