A6D (p.Ala6Asp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A6D (p.Ala6Asp) 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 0.05 / 1. The record also includes population frequency data and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- rs1579838227
- ClinGen CA359018780
- ClinVar RCV002711741
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.055
- REVEL 0.02
- CADD 7.18
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available