I52S (p.Ile52Ser) variant of PADI4 (Q9UM07)
I52S (p.Ile52Ser) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I52S (p.Ile52Ser) variant details
- p.Ile52Ser
- gnomAD 1-17331031-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.17
- CADD 17.80
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available