P20T (p.Pro20Thr) variant of LMNA (Prelamin-A/C)
P20T (p.Pro20Thr) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD 1-156114976-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.50
- MetaSVM 0.09
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available