G71W (p.Gly71Trp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G71W (p.Gly71Trp) 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 0.45 / 1. The record also includes population frequency data and structural context.
G71W (p.Gly71Trp) variant details
- p.Gly71Trp
- rs1560981289
- ClinGen CA359017973
- ClinVar RCV002022484
- TOPMed rs1560981289
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.21
- CADD 32.00
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available