Q15K (p.Gln15Lys) variant of LMNA (Prelamin-A/C)
Q15K (p.Gln15Lys) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q15K (p.Gln15Lys) variant details
- p.Gln15Lys
- gnomAD 1-156114961-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.25
- MetaSVM -0.75
- CADD 21.50
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available