A28S (p.Ala28Ser) variant of POLD1 (P28340)
A28S (p.Ala28Ser) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 19-50398933-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0367
- REVEL 0.01
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available