H56R (p.His56Arg) variant of XRCC3 (DNA repair protein XRCC3)
H56R (p.His56Arg) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
H56R (p.His56Arg) variant details
- p.His56Arg
- ESP rs369879767
- ExAC rs369879767
- TOPMed rs369879767
- gnomAD rs369879767
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0421
- REVEL 0.02
- CADD 1.54
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available