Q15L (p.Gln15Leu) variant of LMNA (Prelamin-A/C)
Q15L (p.Gln15Leu) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q15L (p.Gln15Leu) variant details
- p.Gln15Leu
- gnomAD 1-156114962-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.24
- MetaSVM -0.67
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available