R24P (p.Arg24Pro) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R24P (p.Arg24Pro) 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 0.10 / 1. The record also includes population frequency data and structural context.
R24P (p.Arg24Pro) variant details
- p.Arg24Pro
- TOPMed rs1212776156
- gnomAD rs1212776156
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- REVEL 0.07
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available