M1461I (p.Met1461Ile) variant of NF1 (Neurofibromin)
M1461I (p.Met1461Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
M1461I (p.Met1461Ile) variant details
- p.Met1461Ile
- rs1555618677
- ClinGen CA398998852
- ClinVar RCV000632293
- ClinVar RCV003236827
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.85
- MetaLR 0.76
- MetaSVM 0.59
- CADD 24.10
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)