R134H (p.Arg134His) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R134H (p.Arg134His) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R134H (p.Arg134His) variant details
- p.Arg134His
- NCI-TCGA TCGA novel
- TOPMed rs1274645242
- gnomAD rs1274645242
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.13
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available