G12A (p.Gly12Ala) variant of FANCA (Fanconi anemia group A protein)
G12A (p.Gly12Ala) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- TOPMed rs899666953
- gnomAD rs899666953
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.13
- CADD 1.76
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available