S77F (p.Ser77Phe) variant of SERPINA1 (Alpha-1-antitrypsin)
S77F (p.Ser77Phe) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Alpha-1-antitrypsin deficiency; PI S(IIYAMA). The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S77F (p.Ser77Phe) variant details
- p.Ser77Phe
- rs55819880
- ClinGen CA127738
- ClinVar RCV000019608
- ClinVar RCV000169508
- Pathogenic; other
- Alpha-1-antitrypsin deficiency; PI S(IIYAMA)
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic; other (Alpha-1-antitrypsin deficiency; PI S(IIYAMA))
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a… (PMID 1905728)
- Cited in: Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan. (PMID 2309708)