H47Q (p.His47Gln) variant of XRCC2 (DNA repair protein XRCC2)
H47Q (p.His47Gln) in XRCC2 (DNA repair protein XRCC2) is a missense change. 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.
H47Q (p.His47Gln) variant details
- p.His47Gln
- Ensembl rs2098027538
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available