A47T (p.Ala47Thr) variant of SOCS1 (O15524)
A47T (p.Ala47Thr) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- rs768681189
- ClinGen CA394740679
- ClinVar RCV002510339
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.01
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available