V124M (p.Val124Met) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V124M (p.Val124Met) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Congenital secretory sodium diarrhea 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V124M (p.Val124Met) variant details
- p.Val124Met
- rs566685003
- ClinGen CA3176353
- ClinVar RCV001481604
- ClinVar RCV003492254
- Likely benign
- not provided; Congenital secretory sodium diarrhea 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.17
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Likely benign (not provided; Congenital secretory sodium diarrhea 8)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.01)
- Structural context available