K15R (p.Lys15Arg) variant of NF2 (Merlin)
K15R (p.Lys15Arg) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- gnomAD 22-29604042-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.23
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available