G8V (p.Gly8Val) variant of POLD1 (P28340)
G8V (p.Gly8Val) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD 19-50398874-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.06
- CADD 14.30
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available