M1T (p.Met1Thr) variant of CHM (P24386)
M1T (p.Met1Thr) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2147819159
- ClinGen CA413788728
- ClinVar RCV001378486
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available