V24A (p.Val24Ala) variant of NF2 (Merlin)
V24A (p.Val24Ala) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V24A (p.Val24Ala) variant details
- p.Val24Ala
- rs773714780
- ClinGen CA036034
- ClinVar RCV001026153
- ClinVar RCV001862356
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.62
- CADD 29.20
- PolyPhen-2 0.71
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.8e-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)