G41V (p.Gly41Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G41V (p.Gly41Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
G41V (p.Gly41Val) variant details
- p.Gly41Val
- TOPMed rs1372002924
- gnomAD rs1372002924
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.16
- CADD 22.90
- PolyPhen-2 0.52
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available