A9S (p.Ala9Ser) variant of LMNA (Prelamin-A/C)
A9S (p.Ala9Ser) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 1-156114943-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.77
- CADD 18.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available