A47V (p.Ala47Val) variant of FANCA (Fanconi anemia group A protein)
A47V (p.Ala47Val) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- NCI-TCGA Cosmic COSV6688
- cosmic curated COSV66881
- Ensembl rs2041097798
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available