T27A (p.Thr27Ala) variant of LMNA (Prelamin-A/C)
T27A (p.Thr27Ala) 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.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- gnomAD 1-156114997-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.53
- ESM-1b 0.62
- AlphaMissense 0.92
- MetaLR 0.43
- MetaSVM -0.05
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available