V81M (p.Val81Met) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V81M (p.Val81Met) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V81M (p.Val81Met) variant details
- p.Val81Met
- rs1409190584
- ClinGen CA359031641
- ClinVar RCV002806052
- TOPMed rs1409190584
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.16
- CADD 17.50
- PolyPhen-2 0.62
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00051)
- Structural context available