P66L (p.Pro66Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
P66L (p.Pro66Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- rs746746841
- ClinGen CA8030626
- NCI-TCGA Cosmic COSV5789
- ClinVar RCV003984946
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.73
- CADD 27.80
- PolyPhen-2 0.78
- SIFT 0.05
- ClinVar: Uncertain significance (Familial renal glucosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available