P20Q (p.Pro20Gln) variant of LMNA (Prelamin-A/C)
P20Q (p.Pro20Gln) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD 1-156114977-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.65
- MetaSVM 0.35
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available