M540T (p.Met540Thr) variant of LMNA (Prelamin-A/C)
M540T (p.Met540Thr) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hutchinson-Gilford syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
M540T (p.Met540Thr) variant details
- p.Met540Thr
- rs267607547
- ClinGen CA017588
- ClinVar RCV000057340
- ClinVar RCV000192012
- Pathogenic
- Hutchinson-Gilford syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.71
- MetaLR 0.63
- MetaSVM 0.17
- CADD 22.30
- ClinVar: Pathogenic (Hutchinson-Gilford syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Hutchinson-Gilford Progeria Syndrome. (PMID 20301300)