A16T (p.Ala16Thr) variant of LMNA (Prelamin-A/C)
A16T (p.Ala16Thr) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 1-156114964-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.70
- CADD 19.40
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available