R296H (p.Arg296His) variant of LMNA (Prelamin-A/C)
R296H (p.Arg296His) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial partial lipodystrophy, Dunnigan type; Hutchinson-Gilford syndrome; Hear. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R296H (p.Arg296His) variant details
- p.Arg296His
- rs1024051591
- NCI-TCGA Cosmic COSV6154
- cosmic curated COSV61544
- TOPMed rs1024051591
- Uncertain significance
- Familial partial lipodystrophy, Dunnigan type; Hutchinson-Gilford syndrome; Hear
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.88
- MetaSVM 0.94
- CADD 23.60
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available