R11P (p.Arg11Pro) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R11P (p.Arg11Pro) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- 1000Genomes rs557874732
- ExAC rs557874732
- TOPMed rs557874732
- gnomAD rs557874732
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.08
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available