G128S (p.Gly128Ser) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G128S (p.Gly128Ser) 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 0.52 / 1. The record also includes population frequency data and structural context.
G128S (p.Gly128Ser) variant details
- p.Gly128Ser
- rs746669869
- ClinGen CA3176351
- ClinVar RCV002047862
- ExAC rs746669869
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.35
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available