L65P (p.Leu65Pro) variant of SERPINA1 (Alpha-1-antitrypsin)
L65P (p.Leu65Pro) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Alpha-1-antitrypsin deficiency; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L65P (p.Leu65Pro) variant details
- p.Leu65Pro
- rs28931569
- ClinGen CA127686
- ClinVar RCV000019571
- ClinVar RCV000201848
- Pathogenic/Likely pathogenic
- not provided; Alpha-1-antitrypsin deficiency; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.63
- CADD 20.50
- PolyPhen-2 0.48
- SIFT 0.19
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alpha-1-antitrypsin deficiency; See cases)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the Middle Eastern population (allele frequency 0.0014)
- Structural context available
- Cited in: The alpha 1-antitrypsin gene and its deficiency states. (PMID 2696185)
- Cited in: Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida. (PMID 3262617)