S38F (p.Ser38Phe) variant of SLC22A5 (O76082)
S38F (p.Ser38Phe) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- ESP rs369354736
- ExAC rs369354736
- TOPMed rs369354736
- gnomAD rs369354736
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.61
- CADD 23.30
- PolyPhen-2 0.82
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available