E33K (p.Glu33Lys) variant of LMNA (Prelamin-A/C)
E33K (p.Glu33Lys) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD 1-156115015-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.68
- MetaLR 0.56
- MetaSVM 0.13
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available