K54N (p.Lys54Asn) variant of XRCC2 (DNA repair protein XRCC2)
K54N (p.Lys54Asn) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- gnomAD rs1473933943
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.81
- MetaLR 0.87
- MetaSVM 0.77
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available