V27I (p.Val27Ile) variant of NF2 (Merlin)
V27I (p.Val27Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V27I (p.Val27Ile) variant details
- p.Val27Ile
- rs965231734
- ClinGen CA411146127
- ClinVar RCV004015652
- TOPMed rs965231734
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.20
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)