V23M (p.Val23Met) variant of RAD51C (O43502)
V23M (p.Val23Met) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O. 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.
V23M (p.Val23Met) variant details
- p.Val23Met
- rs1386696811
- ClinGen CA400336857
- ClinVar RCV001878707
- gnomAD rs1386696811
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.13
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.04
- CADD 24.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)