D47N (p.Asp47Asn) variant of STAT5B (P51692)
D47N (p.Asp47Asn) 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.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- ExAC rs755543502
- gnomAD rs755543502
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.33
- CADD 27.20
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available