p.Asp27dup variant of POLD1 (P28340)
p.Asp27dup in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
p.Asp27dup variant details
- rs767241512
- gnomAD 19-50398920-G-GGA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 14.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available