M62I (p.Met62Ile) variant of SLC5A2 (Sodium/glucose cotransporter 2)
M62I (p.Met62Ile) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
M62I (p.Met62Ile) variant details
- p.Met62Ile
- gnomAD rs1040682360
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.78
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available