C49Y (p.Cys49Tyr) variant of SLC6A19 (Q695T7)
C49Y (p.Cys49Tyr) in SLC6A19 (Q695T7) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- rs796064507
- ClinGen CA248449
- ClinVar RCV000190382
- Ensembl rs796064507
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available