G13V (p.Gly13Val) variant of LMNA (Prelamin-A/C)
G13V (p.Gly13Val) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD 1-156114956-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.29
- MetaSVM -0.57
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available