L57V (p.Leu57Val) variant of FANCA (Fanconi anemia group A protein)
L57V (p.Leu57Val) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- ESP rs368828271
- ExAC rs368828271
- TOPMed rs368828271
- gnomAD rs368828271
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- REVEL 0.09
- CADD 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available