M29V (p.Met29Val) variant of NF2 (Merlin)
M29V (p.Met29Val) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M29V (p.Met29Val) variant details
- p.Met29Val
- rs2064717331
- ClinGen CA411146162
- ClinVar RCV001052677
- ClinVar RCV004031653
- Uncertain significance
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.55
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Neurofibromatosis, type 2; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)