R388P (p.Arg388Pro) variant of LMNA (Prelamin-A/C)
R388P (p.Arg388Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
R388P (p.Arg388Pro) variant details
- p.Arg388Pro
- rs267607576
- ClinGen CA342820778
- ClinVar RCV000501231
- ExAC rs267607576
- Likely pathogenic
- Muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.74
- MetaSVM 0.64
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Muscular dystrophy)
- EBI: Likely pathogenic (in CMD1A)
- UniProt: Likely pathogenic (in CMD1A)
- Structural context available