Q15R (p.Gln15Arg) variant of LMNA (Prelamin-A/C)
Q15R (p.Gln15Arg) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q15R (p.Gln15Arg) variant details
- p.Gln15Arg
- gnomAD 1-156114962-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.15
- MetaSVM -0.89
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available