Q30L (p.Gln30Leu) variant of LMNA (Prelamin-A/C)
Q30L (p.Gln30Leu) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q30L (p.Gln30Leu) variant details
- p.Gln30Leu
- gnomAD 1-156115007-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.79
- MetaSVM 0.76
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available