A134V (p.Ala134Val) variant of STAT5B (P51692)
A134V (p.Ala134Val) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A134V (p.Ala134Val) variant details
- p.Ala134Val
- gnomAD rs1377209657
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.06
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available