p.Met13 Leu19del variant of SLC5A2 (Sodium/glucose cotransporter 2)
p.Met13 Leu19del in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Met13 Leu19del variant details
- gnomAD 16-31483171-AGATG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available