S16G (p.Ser16Gly) variant of RAD51C (O43502)
S16G (p.Ser16Gly) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Fanconi anemia complementation group O; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- rs762060755
- ClinGen CA8677129
- ClinVar RCV001348951
- ClinVar RCV001773696
- Conflicting interpretations
- not provided; Fanconi anemia complementation group O; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.05
- AlphaMissense 0.11
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.40
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fanconi anemia complementation group O; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)