A18D (p.Ala18Asp) variant of POLD1 (P28340)
A18D (p.Ala18Asp) 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 and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- Ensembl rs2122194740
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.02
- CADD 14.90
- PolyPhen-2 0.07
- SIFT 0.26
- Population evidence available
- Structural context available