M101I (p.Met101Ile) variant of JAK1 (Tyrosine-protein kinase JAK1)
M101I (p.Met101Ile) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar 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 0.08 / 1. The record also includes population frequency data and structural context.
M101I (p.Met101Ile) variant details
- p.Met101Ile
- Ensembl rs1644727195
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- REVEL 0.10
- CADD 1.35
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available