P21S (p.Pro21Ser) variant of RAD51C (O43502)
P21S (p.Pro21Ser) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs752608224
- ClinGen CA337583
- NCI-TCGA Cosmic COSV5361
- cosmic curated COSV53611
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.13
- AlphaMissense 0.18
- MetaLR 0.09
- MetaSVM -1.09
- CADD 16.60
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)