H130Y (p.His130Tyr) variant of XRCC3 (DNA repair protein XRCC3)
H130Y (p.His130Tyr) in XRCC3 (DNA repair protein XRCC3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H130Y (p.His130Tyr) variant details
- p.His130Tyr
- ExAC rs765763000
- gnomAD rs765763000
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.06
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.85
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available