E36G (p.Glu36Gly) variant of POLD1 (P28340)
E36G (p.Glu36Gly) 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.
E36G (p.Glu36Gly) variant details
- p.Glu36Gly
- gnomAD 19-50398958-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.03
- CADD 23.80
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available