W41R (p.Trp41Arg) variant of NF2 (Merlin)
W41R (p.Trp41Arg) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
W41R (p.Trp41Arg) variant details
- p.Trp41Arg
- gnomAD 22-29636757-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.57
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available