S7Y (p.Ser7Tyr) variant of NF2 (Merlin)
S7Y (p.Ser7Tyr) in NF2 (Merlin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.54
- CADD 24.40
- PolyPhen-2 0.27
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available