A16S (p.Ala16Ser) variant of XRCC2 (DNA repair protein XRCC2)
A16S (p.Ala16Ser) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- rs4987090
- ClinGen CA4582416
- ClinVar RCV001045634
- ClinVar RCV002339230
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -0.97
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Rare mutations in XRCC2 increase the risk of breast cancer. (PMID 22464251)
- Cited in: Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2. (PMID 27233470)