M32V (p.Met32Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
M32V (p.Met32Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Thrombocythemia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M32V (p.Met32Val) variant details
- p.Met32Val
- rs778174935
- ClinGen CA4971482
- ClinVar RCV003337754
- ClinVar RCV005061285
- Uncertain significance
- not provided; Thrombocythemia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.22
- AlphaMissense 0.05
- MetaLR 0.11
- MetaSVM -0.97
- CADD 6.49
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; Thrombocythemia 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available