V149M (p.Val149Met) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V149M (p.Val149Met) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital secretory sodium diarrhea 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V149M (p.Val149Met) variant details
- p.Val149Met
- rs139970401
- ClinGen CA3176336
- ClinVar RCV003564087
- ClinVar RCV004723386
- Conflicting interpretations
- Congenital secretory sodium diarrhea 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.08
- CADD 9.77
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital secretory sodium diarrhea 8; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available