Q6K (p.Gln6Lys) variant of LMNA (Prelamin-A/C)
Q6K (p.Gln6Lys) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q6K (p.Gln6Lys) variant details
- p.Gln6Lys
- gnomAD 1-156114934-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.22
- MetaSVM -0.59
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available