H48Y (p.His48Tyr) variant of XRCC3 (DNA repair protein XRCC3)
H48Y (p.His48Tyr) in XRCC3 (DNA repair protein XRCC3) is a missense change. 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.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- TOPMed rs1308409831
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.06
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available