L21M (p.Leu21Met) variant of LMNA (Prelamin-A/C)
L21M (p.Leu21Met) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- Ensembl rs866007080
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 22.20
- PolyPhen-2 0.15
- SIFT 0.02
- Population evidence available
- Structural context available