R8C (p.Arg8Cys) variant of PADI4 (Q9UM07)
R8C (p.Arg8Cys) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- ExAC rs572732935
- TOPMed rs572732935
- gnomAD rs572732935
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.04
- CADD 22.90
- PolyPhen-2 0.91
- SIFT 0.05
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available