G47V (p.Gly47Val) variant of PADI4 (Q9UM07)
G47V (p.Gly47Val) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- gnomAD 1-17331016-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.09
- CADD 16.20
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available