R60P (p.Arg60Pro) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R60P (p.Arg60Pro) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R60P (p.Arg60Pro) variant details
- p.Arg60Pro
- gnomAD 16-31484725-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.92
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available