K40K (p.Lys40Lys) variant of NF2 (Merlin)
K40K (p.Lys40Lys) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- rs1245544443
- gnomAD 22-29636756-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 8.59
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available