V63C (p.Val63Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
V63C (p.Val63Cys) in SLC5A2 (Sodium/glucose cotransporter 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V63C (p.Val63Cys) variant details
- p.Val63Cys
- rs1567387460
- gnomAD 16-31484731-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 29.40
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available