A53V (p.Ala53Val) variant of PADI4 (Q9UM07)
A53V (p.Ala53Val) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- gnomAD 1-17331034-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.05
- CADD 2.46
- PolyPhen-2 0.12
- SIFT 0.97
- Population evidence available
- Structural context available
- Literature evidence available