M62L (p.Met62Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
M62L (p.Met62Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
M62L (p.Met62Leu) variant details
- p.Met62Leu
- gnomAD 16-31484730-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.66
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available