S5N (p.Ser5Asn) variant of SLC2A1 (P11166)
S5N (p.Ser5Asn) in SLC2A1 (P11166) is a missense change. 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.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- gnomAD rs1326368803
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 0.00018)
- Structural context available