R16R (p.Arg16Arg) variant of NF2 (Merlin)
R16R (p.Arg16Arg) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R16R (p.Arg16Arg) variant details
- p.Arg16Arg
- rs774973059
- gnomAD 22-29604046-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 15.10
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available
- Literature evidence available