A28E (p.Ala28Glu) variant of POLD1 (P28340)
A28E (p.Ala28Glu) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- gnomAD 19-50398934-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.02
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available