A2G (p.Ala2Gly) variant of PADI4 (Q9UM07)
A2G (p.Ala2Gly) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 1-17308227-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available