D14Y (p.Asp14Tyr) variant of FANCA (Fanconi anemia group A protein)
D14Y (p.Asp14Tyr) 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.
D14Y (p.Asp14Tyr) variant details
- p.Asp14Tyr
- gnomAD rs1239434360
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- CADD 16.10
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available