S10R (p.Ser10Arg) variant of NF2 (Merlin)
S10R (p.Ser10Arg) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- gnomAD 22-29604028-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available