P21A (p.Pro21Ala) variant of RAD51C (O43502)
P21A (p.Pro21Ala) 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; Fanconi anemia complementation group O. 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.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- rs752608224
- ClinGen CA8677134
- NCI-TCGA Cosmic COSV5361
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.09
- AlphaMissense 0.18
- MetaLR 0.09
- MetaSVM -1.09
- CADD 14.60
- PolyPhen-2 0.05
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)