D27N (p.Asp27Asn) variant of POLD1 (P28340)
D27N (p.Asp27Asn) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- gnomAD 19-50398930-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.07
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available