M1T (p.Met1Thr) variant of TRMU (O75648)
M1T (p.Met1Thr) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs118203992
- ClinGen CA10603573
- ClinVar RCV000402876
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.31
- MetaSVM -0.51
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available