V23A (p.Val23Ala) variant of RAD51C (O43502)
V23A (p.Val23Ala) 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 0.35 / 1. The record also includes published literature and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- rs2047807604
- ClinGen CA400336863
- ClinVar RCV003618528
- Ensembl rs2047807604
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.22
- MetaLR 0.13
- MetaSVM -0.93
- PolyPhen-2 0.61
- SIFT 0.22
- EVE 0.26
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)