S3G (p.Ser3Gly) variant of XRCC2 (DNA repair protein XRCC2)
S3G (p.Ser3Gly) 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 Hereditary cancer-predisposing syndrome; XRCC2-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S3G (p.Ser3Gly) variant details
- p.Ser3Gly
- rs762701579
- ClinGen CA4582449
- ClinVar RCV000484929
- ClinVar RCV000708766
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; XRCC2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.93
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; XRCC2-related disorder;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)