M18T (p.Met18Thr) variant of APC (Adenomatous polyposis coli protein)
M18T (p.Met18Thr) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
M18T (p.Met18Thr) variant details
- p.Met18Thr
- ESP rs200960071
- ExAC rs200960071
- gnomAD rs200960071
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.06
- MetaSVM -1.06
- SIFT 0.05
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available