A15S (p.Ala15Ser) variant of SLC2A1 (P11166)
A15S (p.Ala15Ser) in SLC2A1 (P11166) 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 0.39 / 1. The record also includes population frequency data and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs1393626431
- ClinGen CA339964873
- ClinVar RCV003136760
- TOPMed rs1393626431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.23
- CADD 20.10
- PolyPhen-2 0.05
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available