A53V (p.Ala53Val) variant of XRCC3 (DNA repair protein XRCC3)
A53V (p.Ala53Val) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- TOPMed rs2083521900
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.07
- CADD 11.30
- PolyPhen-2 0.04
- SIFT 0.65
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available