V39A (p.Val39Ala) variant of SLC18A2 (Q05940)
V39A (p.Val39Ala) in SLC18A2 (Q05940) 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 0.65 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- 1000Genomes rs576728187
- ExAC rs576728187
- TOPMed rs576728187
- gnomAD rs576728187
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 28.70
- PolyPhen-2 0.73
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.0099)
- Structural context available