P23A (p.Pro23Ala) variant of LMNA (Prelamin-A/C)
P23A (p.Pro23Ala) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- gnomAD 1-156114985-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.63
- MetaSVM 0.37
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available