S217L (p.Ser217Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
S217L (p.Ser217Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital secretory sodium diarrhea 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S217L (p.Ser217Leu) variant details
- p.Ser217Leu
- rs777074221
- NCI-TCGA Cosmic COSV5380
- cosmic curated COSV53804
- ExAC rs777074221
- Likely pathogenic
- Congenital secretory sodium diarrhea 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.61
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital secretory sodium diarrhea 8)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available