Q30P (p.Gln30Pro) variant of LMNA (Prelamin-A/C)
Q30P (p.Gln30Pro) 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 Congenital muscular dystrophy due to LMNA mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
Q30P (p.Gln30Pro) variant details
- p.Gln30Pro
- rs2527830531
- ClinGen CA342807380
- ClinVar RCV003140303
- Uncertain significance
- Congenital muscular dystrophy due to LMNA mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Congenital muscular dystrophy due to LMNA mutation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available