K42K (p.Lys42Lys) variant of NF2 (Merlin)
K42K (p.Lys42Lys) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- rs1601578848
- gnomAD 22-29636762-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 10.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available