R52L (p.Arg52Leu) variant of FANCA (Fanconi anemia group A protein)
R52L (p.Arg52Leu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
R52L (p.Arg52Leu) variant details
- p.Arg52Leu
- NCI-TCGA Cosmic COSV6688
- cosmic curated COSV66883
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available