A35T (p.Ala35Thr) variant of SOCS1 (O15524)
A35T (p.Ala35Thr) 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 0.22 / 1. The record also includes population frequency data and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- TOPMed rs998577469
- gnomAD rs998577469
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.03
- CADD 12.40
- PolyPhen-2 0.03
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available