P23H (p.Pro23His) variant of LMNA (Prelamin-A/C)
P23H (p.Pro23His) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- gnomAD 1-156114986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.57
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available