M1V (p.Met1Val) variant of LMNA (Prelamin-A/C)
M1V (p.Met1Val) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2102816719
- ClinGen CA342805818
- ClinVar RCV004524855
- Pathogenic
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- ESM-1b 1.00
- AlphaMissense 0.29
- ClinVar: Pathogenic (Cardiovascular phenotype)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available