V48W (p.Val48Trp) variant of PADI4 (Q9UM07)
V48W (p.Val48Trp) in PADI4 (Q9UM07) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V48W (p.Val48Trp) variant details
- p.Val48Trp
- gnomAD 1-17331014-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available