P9R (p.Pro9Arg) variant of POLD1 (P28340)
P9R (p.Pro9Arg) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- gnomAD 19-50398877-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.05
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available