A203V (p.Ala203Val) variant of STAT5B (P51692)
A203V (p.Ala203Val) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A203V (p.Ala203Val) variant details
- p.Ala203Val
- ESP rs139065819
- ExAC rs139065819
- TOPMed rs139065819
- gnomAD rs139065819
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- CADD 20.10
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available