A1610E (p.Ala1610Glu) variant of NF1 (Neurofibromin)
A1610E (p.Ala1610Glu) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A1610E (p.Ala1610Glu) variant details
- p.Ala1610Glu
- rs2151470350
- ClinGen CA399001381
- ClinVar RCV003837966
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.51
- AlphaMissense 0.76
- MetaLR 0.38
- MetaSVM -0.49
- CADD 25.30
- PolyPhen-2 0.03
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)