G12W (p.Gly12Trp) variant of POLD1 (P28340)
G12W (p.Gly12Trp) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G12W (p.Gly12Trp) variant details
- p.Gly12Trp
- gnomAD 19-50398885-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.13
- CADD 24.00
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available