H4H (p.His4His) variant of NF1 (Neurofibromin)
H4H (p.His4His) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H4H (p.His4His) variant details
- p.His4His
- rs2143144553
- gnomAD 17-31095321-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available