T19P (p.Thr19Pro) variant of LMNA (Prelamin-A/C)
T19P (p.Thr19Pro) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T19P (p.Thr19Pro) variant details
- p.Thr19Pro
- gnomAD 1-156114973-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.66
- ESM-1b 0.03
- AlphaMissense 0.23
- MetaLR 0.58
- MetaSVM 0.28
- CADD 23.80
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available