T24N (p.Thr24Asn) variant of LMNA (Prelamin-A/C)
T24N (p.Thr24Asn) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T24N (p.Thr24Asn) variant details
- p.Thr24Asn
- gnomAD 1-156114989-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.34
- MetaSVM -0.38
- CADD 22.50
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available