A18G (p.Ala18Gly) variant of POLD1 (P28340)
A18G (p.Ala18Gly) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- gnomAD 19-50398904-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.03
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available