L108R (p.Leu108Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
L108R (p.Leu108Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L108R (p.Leu108Arg) variant details
- p.Leu108Arg
- ESP rs137888162
- TOPMed rs137888162
- Uncertain significance
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.46
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Alpha-1-antitrypsin deficiency)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available