A3T (p.Ala3Thr) variant of SOCS1 (O15524)
A3T (p.Ala3Thr) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar and UniProt describe it as tier i - strong in the context of Malignant lymphoma, large B-cell, diffuse. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- cosmic curated COSV59658
- Tier I - Strong
- Malignant lymphoma, large B-cell, diffuse
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.08
- CADD 26.40
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Tier I - Strong (Malignant lymphoma, large B-cell, diffuse)
- UniProt: Tier i - strong
- Population evidence available
- Structural context available