D135V (p.Asp135Val) variant of STAT5B (P51692)
D135V (p.Asp135Val) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D135V (p.Asp135Val) variant details
- p.Asp135Val
- gnomAD rs2080248072
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.54
- CADD 24.30
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available