V25M (p.Val25Met) variant of RAD51C (O43502)
V25M (p.Val25Met) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- rs757116652
- ClinGen CA8677139
- ClinVar RCV000572807
- ClinVar RCV000590825
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.10
- AlphaMissense 0.23
- MetaLR 0.14
- MetaSVM -1.04
- CADD 23.10
- PolyPhen-2 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 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)