V138I (p.Val138Ile) variant of XRCC3 (DNA repair protein XRCC3)
V138I (p.Val138Ile) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V138I (p.Val138Ile) variant details
- p.Val138Ile
- rs146507354
- ESP rs146507354
- ExAC rs146507354
- TOPMed rs146507354
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.10
- CADD 15.30
- PolyPhen-2 0.19
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available