Q30K (p.Gln30Lys) variant of LMNA (Prelamin-A/C)
Q30K (p.Gln30Lys) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Q30K (p.Gln30Lys) variant details
- p.Gln30Lys
- gnomAD 1-156115006-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.78
- MetaSVM 0.77
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available