R24L (p.Arg24Leu) variant of RAD51C (O43502)
R24L (p.Arg24Leu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- rs777554369
- ClinGen CA16620488
- NCI-TCGA Cosmic COSV9954
- cosmic curated COSV99542
- Uncertain significance
- not provided; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.24
- CADD 25.20
- PolyPhen-2 0.43
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)