D9Y (p.Asp9Tyr) variant of FAN1 (Fanconi-associated nuclease 1)
D9Y (p.Asp9Tyr) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- gnomAD 15-30904688-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.29
- CADD 21.20
- PolyPhen-2 0.23
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available