R8H (p.Arg8His) variant of PADI4 (Q9UM07)
R8H (p.Arg8His) in PADI4 (Q9UM07) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs35381732
- 1000Genomes rs35381732
- ESP rs35381732
- ExAC rs35381732
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs35381732)
- UniProt: Benign (in dbSNP:rs35381732)
- Most common in the 1KG:MSL population (allele frequency 0.14)
- Structural context available