V165I (p.Val165Ile) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V165I (p.Val165Ile) 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 0.36 / 1. The record also includes population frequency data and structural context.
V165I (p.Val165Ile) variant details
- p.Val165Ile
- rs369854335
- ClinGen CA3176322
- ClinVar RCV001940197
- ESP rs369854335
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.93
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available