A22E (p.Ala22Glu) variant of RAD51C (O43502)
A22E (p.Ala22Glu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- rs2143676047
- ClinGen CA400336836
- ClinVar RCV002375827
- ClinVar RCV005254074
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.03
- CADD 15.70
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)