T24A (p.Thr24Ala) variant of LMNA (Prelamin-A/C)
T24A (p.Thr24Ala) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- gnomAD rs1461165954
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available