A117T (p.Ala117Thr) variant of XRCC3 (DNA repair protein XRCC3)
A117T (p.Ala117Thr) in XRCC3 (DNA repair protein XRCC3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A117T (p.Ala117Thr) variant details
- p.Ala117Thr
- TOPMed rs1279147675
- gnomAD rs1279147675
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.27
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available