A16G (p.Ala16Gly) variant of LMNA (Prelamin-A/C)
A16G (p.Ala16Gly) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD 1-156114965-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.83
- CADD 21.30
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available