T7M (p.Thr7Met) variant of JAK2 (Tyrosine-protein kinase JAK2)
T7M (p.Thr7Met) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- rs770579392
- NCI-TCGA Cosmic COSV6769
- ExAC rs770579392
- TOPMed rs770579392
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.18
- AlphaMissense 0.11
- MetaLR 0.25
- MetaSVM -0.76
- CADD 16.40
- PolyPhen-2 0.08
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available