D370E (p.Asp370Glu) variant of LMNA (Prelamin-A/C)
D370E (p.Asp370Glu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
D370E (p.Asp370Glu) variant details
- p.Asp370Glu
- rs876657649
- ClinGen CA10576367
- ClinVar RCV000223064
- Ensembl rs876657649
- Pathogenic
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available