A29V (p.Ala29Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
A29V (p.Ala29Val) 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. 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.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs1321992857
- ClinGen CA372819684
- ClinVar RCV003703044
- TOPMed rs1321992857
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.10
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.93
- CADD 9.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available