A16T (p.Ala16Thr) variant of SOCS1 (O15524)
A16T (p.Ala16Thr) 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 0.18 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- cosmic curated COSV59658
- 1000Genomes rs537872317
- ExAC rs537872317
- TOPMed rs537872317
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.05
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available