A14S (p.Ala14Ser) variant of LMNA (Prelamin-A/C)
A14S (p.Ala14Ser) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 1-156114958-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.24
- MetaSVM -0.63
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available