G97S (p.Gly97Ser) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G97S (p.Gly97Ser) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, 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 0.48 / 1. The record also includes population frequency data and structural context.
G97S (p.Gly97Ser) variant details
- p.Gly97Ser
- rs1286293489
- ClinGen CA359031550
- ClinVar RCV003004985
- TOPMed rs1286293489
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.28
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available