K20K (p.Lys20Lys) variant of NF2 (Merlin)
K20K (p.Lys20Lys) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K20K (p.Lys20Lys) variant details
- p.Lys20Lys
- gnomAD 22-29604058-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 15.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available