K44K (p.Lys44Lys) variant of NF2 (Merlin)
K44K (p.Lys44Lys) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K44K (p.Lys44Lys) variant details
- p.Lys44Lys
- rs1224221346
- gnomAD 22-29636768-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 11.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available