A9V (p.Ala9Val) variant of LMNA (Prelamin-A/C)
A9V (p.Ala9Val) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 1-156114944-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.31
- MetaSVM -0.54
- CADD 22.80
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Literature evidence available