S89F (p.Ser89Phe) variant of SERPINA1 (Alpha-1-antitrypsin)
S89F (p.Ser89Phe) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S89F (p.Ser89Phe) variant details
- p.Ser89Phe
- NCI-TCGA Cosmic COSV6334
- cosmic curated COSV63345
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available