H31P (p.His31Pro) variant of NF1 (Neurofibromin)
H31P (p.His31Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in NF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
H31P (p.His31Pro) variant details
- p.His31Pro
- rs199474725
- ClinGen CA398988185
- ClinVar RCV002371510
- ClinVar RCV004572395
- Uncertain significance
- in NF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.24
- MetaLR 0.08
- MetaSVM -1.12
- PolyPhen-2 0.96
- SIFT 0.28
- EVE 0.10
- 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: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)