H40R (p.His40Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
H40R (p.His40Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H40R (p.His40Arg) variant details
- p.His40Arg
- 1000Genomes rs186478039
- ExAC rs186478039
- TOPMed rs186478039
- gnomAD rs186478039
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available