A2T (p.Ala2Thr) variant of PADI4 (Q9UM07)
A2T (p.Ala2Thr) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 1-17308226-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available