R11W (p.Arg11Trp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R11W (p.Arg11Trp) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar 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 0.07 / 1. The record also includes population frequency data and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- TOPMed rs967916614
- gnomAD rs967916614
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0748
- REVEL 0.05
- CADD 6.57
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available