V48E (p.Val48Glu) variant of PADI4 (Q9UM07)
V48E (p.Val48Glu) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V48E (p.Val48Glu) variant details
- p.Val48Glu
- gnomAD 1-17331019-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.39
- CADD 24.20
- PolyPhen-2 0.76
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available