V48L (p.Val48Leu) variant of PADI4 (Q9UM07)
V48L (p.Val48Leu) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- gnomAD 1-17331018-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available