K32K (p.Lys32Lys) variant of LMNA (Prelamin-A/C)
K32K (p.Lys32Lys) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K32K (p.Lys32Lys) variant details
- p.Lys32Lys
- rs775429079
- gnomAD 1-156115014-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 15.70
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available