G10V (p.Gly10Val) variant of POLD1 (P28340)
G10V (p.Gly10Val) in POLD1 (P28340) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- cosmic curated COSV70954
- Conflicting interpretations
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- CADD 18.60
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Colorectal cancer, susceptibility to, 10; Hereditary cancer-pred)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available