M9T (p.Met9Thr) variant of NF2 (Merlin)
M9T (p.Met9Thr) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M9T (p.Met9Thr) variant details
- p.Met9Thr
- rs1729649719
- ClinGen CA411145821
- cosmic curated COSV58520
- ClinVar RCV003607137
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.71
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)