H31Q (p.His31Gln) variant of NF1 (Neurofibromin)
H31Q (p.His31Gln) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
H31Q (p.His31Gln) variant details
- p.His31Gln
- rs2143625630
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- Ensembl rs2143625630
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.25
- MetaLR 0.03
- MetaSVM -0.93
- PolyPhen-2 0.96
- SIFT 1.00
- EVE 0.06
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- EBI: Variant of uncertain significance (in NF1)
- UniProt: Uncertain significance (in NF1)
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)