R63H (p.Arg63His) variant of SERPINA1 (Alpha-1-antitrypsin)
R63H (p.Arg63His) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in A1ATD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- ExAC rs764726147
- TOPMed rs764726147
- gnomAD rs764726147
- Likely benign
- in A1ATD
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.38
- CADD 12.50
- PolyPhen-2 0.03
- SIFT 0.16
- EBI: Likely benign (in A1ATD)
- UniProt: Likely benign (in A1ATD)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available