M8L (p.Met8Leu) variant of TYK2 (P29597)
M8L (p.Met8Leu) in TYK2 (P29597) 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 0.24 / 1. The record also includes population frequency data and structural context.
M8L (p.Met8Leu) variant details
- p.Met8Leu
- 1000Genomes rs562457260
- ExAC rs562457260
- TOPMed rs562457260
- gnomAD rs562457260
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.12
- CADD 0.52
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available