G47R (p.Gly47Arg) variant of PADI4 (Q9UM07)
G47R (p.Gly47Arg) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- TOPMed rs1017936326
- gnomAD rs1017936326
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.88
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available