G41D (p.Gly41Asp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G41D (p.Gly41Asp) 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 0.27 / 1. The record also includes population frequency data and structural context.
G41D (p.Gly41Asp) variant details
- p.Gly41Asp
- rs1372002924
- ClinGen CA359018341
- ClinVar RCV001956992
- TOPMed rs1372002924
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.15
- CADD 21.20
- PolyPhen-2 0.34
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available