P21L (p.Pro21Leu) variant of RAD51C (O43502)
P21L (p.Pro21Leu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- rs587782511
- ClinGen CA168555
- ClinVar RCV000131660
- ClinVar RCV000701475
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.20
- CADD 25.80
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)