A33D (p.Ala33Asp) variant of PADI4 (Q9UM07)
A33D (p.Ala33Asp) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- gnomAD 1-17330974-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.34
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available