L25R (p.Leu25Arg) variant of FANCA (Fanconi anemia group A protein)
L25R (p.Leu25Arg) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
L25R (p.Leu25Arg) variant details
- p.Leu25Arg
- rs886052489
- ClinGen CA10648407
- ClinVar RCV000395518
- Ensembl rs886052489
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.44
- MetaLR 0.75
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)