E36D (p.Glu36Asp) variant of POLD1 (P28340)
E36D (p.Glu36Asp) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- gnomAD 19-50398959-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.02
- CADD 19.90
- PolyPhen-2 0.08
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available