E33V (p.Glu33Val) variant of LMNA (Prelamin-A/C)
E33V (p.Glu33Val) 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.
E33V (p.Glu33Val) variant details
- p.Glu33Val
- gnomAD 1-156115016-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.62
- MetaLR 0.52
- MetaSVM 0.03
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available