A59S (p.Ala59Ser) variant of FANCA (Fanconi anemia group A protein)
A59S (p.Ala59Ser) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- ExAC rs779519169
- gnomAD rs779519169
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.02
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available