E113D (p.Glu113Asp) variant of SERPINA1 (Alpha-1-antitrypsin)
E113D (p.Glu113Asp) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E113D (p.Glu113Asp) variant details
- p.Glu113Asp
- rs1566757595
- ClinGen CA390850260
- ClinVar RCV000734907
- TOPMed rs1566757595
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.34
- CADD 19.40
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available