P46Q (p.Pro46Gln) variant of PADI4 (Q9UM07)
P46Q (p.Pro46Gln) in PADI4 (Q9UM07) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P46Q (p.Pro46Gln) variant details
- p.Pro46Gln
- gnomAD 1-17331009-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available