V45I (p.Val45Ile) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V45I (p.Val45Ile) 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.
V45I (p.Val45Ile) variant details
- p.Val45Ile
- rs1733966738
- ClinGen CA359018264
- ClinVar RCV002030644
- gnomAD rs1733966738
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.93
- SIFT 0.07
- 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