A49P (p.Ala49Pro) variant of SOCS1 (O15524)
A49P (p.Ala49Pro) in SOCS1 (O15524) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A49P (p.Ala49Pro) variant details
- p.Ala49Pro
- 1000Genomes rs760692169
- ExAC rs760692169
- TOPMed rs760692169
- gnomAD rs760692169
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.09
- CADD 22.00
- PolyPhen-2 0.54
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available