A33T (p.Ala33Thr) variant of PADI4 (Q9UM07)
A33T (p.Ala33Thr) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- gnomAD 1-17330973-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 0.88
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available