V94L (p.Val94Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V94L (p.Val94Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
V94L (p.Val94Leu) variant details
- p.Val94Leu
- ExAC rs759214318
- TOPMed rs759214318
- gnomAD rs759214318
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.11
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available