Q6H (p.Gln6His) variant of LMNA (Prelamin-A/C)
Q6H (p.Gln6His) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q6H (p.Gln6His) variant details
- p.Gln6His
- gnomAD 1-156114936-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.37
- MetaSVM -0.36
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available