T19N (p.Thr19Asn) variant of LMNA (Prelamin-A/C)
T19N (p.Thr19Asn) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T19N (p.Thr19Asn) variant details
- p.Thr19Asn
- gnomAD 1-156114974-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.36
- MetaSVM -0.32
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available