R8S (p.Arg8Ser) variant of PADI4 (Q9UM07)
R8S (p.Arg8Ser) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- ExAC rs572732935
- TOPMed rs572732935
- gnomAD rs572732935
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.66
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available