P119A (p.Pro119Ala) variant of ERCC2 (P18074)
P119A (p.Pro119Ala) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P119A (p.Pro119Ala) variant details
- p.Pro119Ala
- rs2123312739
- ClinGen CA406377933
- ClinVar RCV001977797
- Ensembl rs2123312739
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.56
- CADD 24.00
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available