F75L (p.Phe75Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
F75L (p.Phe75Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in A1ATD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F75L (p.Phe75Leu) variant details
- p.Phe75Leu
- rs1230465323
- NCI-TCGA Cosmic COSV6334
- cosmic curated COSV63345
- TOPMed rs1230465323
- Variant assessed as somatic; moderate impact.
- in A1ATD
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.54
- CADD 22.70
- PolyPhen-2 0.25
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact. (in A1ATD)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available