H54Y (p.His54Tyr) variant of PADI4 (Q9UM07)
H54Y (p.His54Tyr) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- gnomAD 1-17331036-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- CADD 10.50
- PolyPhen-2 0.77
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available