M1T (p.Met1Thr) variant of LAMC2 (Laminin subunit gamma-2)
M1T (p.Met1Thr) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1553262199
- ClinGen CA343662631
- ClinVar RCV000579075
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- MetaLR 0.11
- MetaSVM -1.00
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available