R16S (p.Arg16Ser) variant of NF2 (Merlin)
R16S (p.Arg16Ser) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- ExAC rs774973059
- TOPMed rs774973059
- gnomAD rs774973059
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.59
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available