M101L (p.Met101Leu) variant of JAK1 (Tyrosine-protein kinase JAK1)
M101L (p.Met101Leu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
M101L (p.Met101Leu) variant details
- p.Met101Leu
- TOPMed rs1320163960
- gnomAD rs1320163960
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.07
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available