A67T (p.Ala67Thr) variant of JAK1 (Tyrosine-protein kinase JAK1)
A67T (p.Ala67Thr) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- Ensembl rs2101263671
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.04
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available