G608S (p.Gly608Ser) variant of LMNA (Prelamin-A/C)
G608S (p.Gly608Ser) 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 0.40 / 1. The record also includes published literature and structural context.
G608S (p.Gly608Ser) variant details
- p.Gly608Ser
- rs61064130
- ClinGen CA015235
- ClinVar RCV000015595
- ClinVar RCV000057363
- Pathogenic
- Hutchinson-Gilford syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.55
- MetaSVM 0.29
- PolyPhen-2 0.78
- SIFT 0.10
- ClinVar: Pathogenic (Hutchinson-Gilford syndrome)
- EBI: Pathogenic (in HGPS)
- UniProt: Pathogenic (in HGPS)
- Structural context available
- Cited in: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. (PMID 12714972)
- Cited in: LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM… (PMID 12768443)