G13W (p.Gly13Trp) variant of LMNA (Prelamin-A/C)
G13W (p.Gly13Trp) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G13W (p.Gly13Trp) variant details
- p.Gly13Trp
- gnomAD 1-156114955-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.54
- MetaSVM 0.05
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available