V48M (p.Val48Met) variant of PADI4 (Q9UM07)
V48M (p.Val48Met) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- gnomAD 1-17331018-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.31
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available