P56R (p.Pro56Arg) variant of PADI4 (Q9UM07)
P56R (p.Pro56Arg) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- gnomAD 1-17331043-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.04
- CADD 7.09
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available