A190D (p.Ala190Asp) variant of STAT5B (P51692)
A190D (p.Ala190Asp) in STAT5B (P51692) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A190D (p.Ala190Asp) variant details
- p.Ala190Asp
- ExAC rs777956676
- TOPMed rs777956676
- gnomAD rs777956676
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.16
- CADD 17.20
- PolyPhen-2 0.14
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available