D25E (p.Asp25Glu) variant of POLD1 (P28340)
D25E (p.Asp25Glu) in POLD1 (P28340) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- rs772855121
- gnomAD 19-50398925-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available