H4Q (p.His4Gln) variant of NF1 (Neurofibromin)
H4Q (p.His4Gln) 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 0.24 / 1. The record also includes population frequency data and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- Ensembl rs2143144553
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -1.00
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available