R8S (p.Arg8Ser) variant of LMNA (Prelamin-A/C)
R8S (p.Arg8Ser) 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 Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- rs1649697783
- ClinGen CA342806011
- ClinVar RCV002810761
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.80
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)