A21G (p.Ala21Gly) variant of FANCA (Fanconi anemia group A protein)
A21G (p.Ala21Gly) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- TOPMed rs1300380574
- gnomAD rs1300380574
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available