E29D (p.Glu29Asp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
E29D (p.Glu29Asp) 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 0.29 / 1. The record also includes population frequency data and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- rs2477760496
- NCI-TCGA TCGA novel
- ClinGen CA359018534
- ClinVar RCV003016194
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- CADD 8.89
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available