S3F (p.Ser3Phe) variant of SERPINA1 (Alpha-1-antitrypsin)
S3F (p.Ser3Phe) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- ExAC rs759598955
- TOPMed rs759598955
- gnomAD rs759598955
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.36
- CADD 18.30
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available