N100S (p.Asn100Ser) variant of SLC2A1 (P11166)
N100S (p.Asn100Ser) in SLC2A1 (P11166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
N100S (p.Asn100Ser) variant details
- p.Asn100Ser
- ExAC rs781571701
- gnomAD rs781571701
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- CADD 26.40
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available