G13V (p.Gly13Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
G13V (p.Gly13Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- rs759031245
- ClinGen CA4971469
- ClinVar RCV003717850
- ExAC rs759031245
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.18
- AlphaMissense 0.09
- MetaLR 0.25
- MetaSVM -0.90
- CADD 16.30
- PolyPhen-2 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available