L26V (p.Leu26Val) variant of FANCA (Fanconi anemia group A protein)
L26V (p.Leu26Val) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- rs2041137276
- ClinGen CA397484385
- ClinVar RCV001277949
- Ensembl rs2041137276
- Uncertain significance
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi anemia complementation group A)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)