A123V (p.Ala123Val) variant of XRCC3 (DNA repair protein XRCC3)
A123V (p.Ala123Val) in XRCC3 (DNA repair protein XRCC3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- TOPMed rs1443103233
- gnomAD rs1443103233
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available