L315P (p.Leu315Pro) variant of SLC26A2 (Sulfate transporter)
L315P (p.Leu315Pro) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Diastrophic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L315P (p.Leu315Pro) variant details
- p.Leu315Pro
- 1000Genomes rs569436962
- ExAC rs569436962
- TOPMed rs569436962
- gnomAD rs569436962
- Likely pathogenic
- Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Diastrophic dysplasia)
- UniProt: Likely pathogenic
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available