R8L (p.Arg8Leu) variant of LMNA (Prelamin-A/C)
R8L (p.Arg8Leu) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 1-156114941-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.55
- ESM-1b 0.80
- AlphaMissense 0.63
- MetaLR 0.34
- MetaSVM -0.28
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available