V30M (p.Val30Met) variant of STAT5B (P51692)
V30M (p.Val30Met) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- Ensembl rs2144296739
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.48
- CADD 26.00
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available