D27del (p.Asp27del) variant of POLD1 (P28340)
D27del (p.Asp27del) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D27del (p.Asp27del) variant details
- rs767241512
- gnomAD 19-50398920-GGAT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 14.40
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available