Q15H (p.Gln15His) variant of LMNA (Prelamin-A/C)
Q15H (p.Gln15His) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q15H (p.Gln15His) variant details
- p.Gln15His
- gnomAD 1-156114963-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.22
- MetaSVM -0.67
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available