S15P (p.Ser15Pro) variant of SLC37A4 (O43826)
S15P (p.Ser15Pro) in SLC37A4 (O43826) 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 0.35 / 1. The record also includes population frequency data and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- 1000Genomes rs528095472
- ExAC rs528095472
- gnomAD rs528095472
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 20.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available