G47E (p.Gly47Glu) variant of PADI4 (Q9UM07)
G47E (p.Gly47Glu) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- cosmic curated COSV10748
- ExAC rs764319833
- TOPMed rs764319833
- gnomAD rs764319833
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- CADD 5.03
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available