G12D (p.Gly12Asp) variant of FANCA (Fanconi anemia group A protein)
G12D (p.Gly12Asp) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- TOPMed rs899666953
- gnomAD rs899666953
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.15
- CADD 1.35
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available