V149L (p.Val149Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V149L (p.Val149Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V149L (p.Val149Leu) variant details
- p.Val149Leu
- ESP rs139970401
- ExAC rs139970401
- TOPMed rs139970401
- gnomAD rs139970401
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0852
- REVEL 0.04
- CADD 2.06
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available