R134C (p.Arg134Cys) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R134C (p.Arg134Cys) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. 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.
R134C (p.Arg134Cys) variant details
- p.Arg134Cys
- cosmic curated COSV53802
- TOPMed rs1392517997
- gnomAD rs1392517997
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.24
- CADD 28.50
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available