A101V (p.Ala101Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A101V (p.Ala101Val) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
A101V (p.Ala101Val) variant details
- p.Ala101Val
- cosmic curated COSV53799
- ESP rs368556738
- ExAC rs368556738
- TOPMed rs368556738
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.15
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available