M154T (p.Met154Thr) variant of STAT1 (P42224)
M154T (p.Met154Thr) in STAT1 (P42224) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M154T (p.Met154Thr) variant details
- p.Met154Thr
- cosmic curated COSV63115
- 1000Genomes rs149388191
- ESP rs149388191
- ExAC rs149388191
- Uncertain significance
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available