A18P (p.Ala18Pro) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A18P (p.Ala18Pro) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- rs140617924
- ClinGen CA8030576
- ClinVar RCV003000548
- 1000Genomes rs140617924
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 12.10
- PolyPhen-2 0.12
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)