F38S (p.Phe38Ser) variant of SPTA1 (P02549)
F38S (p.Phe38Ser) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
F38S (p.Phe38Ser) variant details
- p.Phe38Ser
- rs1366921505
- ClinGen CA343026779
- ClinVar RCV003491555
- TOPMed rs1366921505
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)