G3S (p.Gly3Ser) variant of POLD1 (P28340)
G3S (p.Gly3Ser) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- gnomAD 19-50398858-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.04
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available