D30V (p.Asp30Val) variant of SERPINA1 (Alpha-1-antitrypsin)
D30V (p.Asp30Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D30V (p.Asp30Val) variant details
- p.Asp30Val
- rs864622048
- ClinGen CA348584
- ClinVar RCV000204334
- Ensembl rs864622048
- Likely benign
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.44
- CADD 6.53
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Likely benign (Alpha-1-antitrypsin deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of… (PMID 14522813)
- Cited in: [American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of… (PMID 15685488)