S5C (p.Ser5Cys) variant of SLC2A1 (P11166)
S5C (p.Ser5Cys) 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 0.36 / 1. The record also includes population frequency data and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- rs780680200
- ClinGen CA339965875
- ClinVar RCV001726750
- ExAC rs780680200
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.33
- CADD 23.90
- PolyPhen-2 0.25
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available