A2S (p.Ala2Ser) variant of NF2 (Merlin)
A2S (p.Ala2Ser) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SMARCB1-related schwannomatosis; Neurofibromatosis, type 2; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs1601515682
- ClinGen CA411145682
- ClinVar RCV000791157
- ClinVar RCV000791158
- Uncertain significance
- SMARCB1-related schwannomatosis; Neurofibromatosis, type 2; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.43
- CADD 27.20
- PolyPhen-2 0.70
- SIFT 0.03
- ClinVar: Uncertain significance (SMARCB1-related schwannomatosis; Neurofibromatosis, type 2; Fami)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)