R11H (p.Arg11His) variant of LMNA (Prelamin-A/C)
R11H (p.Arg11His) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- gnomAD 1-156114950-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.53
- MetaSVM 0.05
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available