R8L (p.Arg8Leu) variant of PADI4 (Q9UM07)
R8L (p.Arg8Leu) in PADI4 (Q9UM07) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- 1000Genomes rs35381732
- ESP rs35381732
- ExAC rs35381732
- TOPMed rs35381732
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.05
- CADD 22.90
- PolyPhen-2 0.72
- SIFT 0.01
- EBI: Benign (in dbSNP:rs35381732)
- UniProt: Benign (in dbSNP:rs35381732)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available