K100N (p.Lys100Asn) variant of JAK1 (Tyrosine-protein kinase JAK1)
K100N (p.Lys100Asn) 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 0.19 / 1. The record also includes population frequency data and structural context.
K100N (p.Lys100Asn) variant details
- p.Lys100Asn
- Ensembl rs2101215683
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available