S71C (p.Ser71Cys) variant of SLC2A4 (P14672)
S71C (p.Ser71Cys) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- Ensembl rs887663108
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.38
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available