G12V (p.Gly12Val) variant of POLD1 (P28340)
G12V (p.Gly12Val) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 19-50398886-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.05
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available