A53S (p.Ala53Ser) variant of PADI4 (Q9UM07)
A53S (p.Ala53Ser) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- gnomAD 1-17331033-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0716
- REVEL 0.06
- CADD 1.43
- PolyPhen-2 0.19
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available