L46H (p.Leu46His) variant of NF2 (Merlin)
L46H (p.Leu46His) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L46H (p.Leu46His) variant details
- p.Leu46His
- Ensembl rs2146852020
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.96
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available