W64C (p.Trp64Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
W64C (p.Trp64Cys) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
W64C (p.Trp64Cys) variant details
- p.Trp64Cys
- gnomAD 16-31484738-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available