S6L (p.Ser6Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
S6L (p.Ser6Leu) 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; 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, published literature, and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- rs140814100
- ClinGen CA127682
- cosmic curated COSV63345
- ClinVar RCV000019570
- Uncertain significance
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.58
- CADD 18.10
- PolyPhen-2 0.13
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Alpha-1-antitrypsin deficiency)
- EBI: Variant of uncertain significance (in A1ATD)
- UniProt: Uncertain significance (in A1ATD)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant. (PMID 2394452)
- Cited in: Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport)… (PMID 2227940)