E36K (p.Glu36Lys) variant of POLD1 (P28340)
E36K (p.Glu36Lys) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- Ensembl rs2038477006
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available