A39V (p.Ala39Val) variant of SLC6A19 (Q695T7)
A39V (p.Ala39Val) in SLC6A19 (Q695T7) 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 0.25 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- 1000Genomes rs569360274
- ExAC rs569360274
- TOPMed rs569360274
- gnomAD rs569360274
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.045)
- Structural context available