P22N (p.Pro22Asn) variant of NF1 (Neurofibromin)
P22N (p.Pro22Asn) in NF1 (Neurofibromin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P22N (p.Pro22Asn) variant details
- p.Pro22Asn
- gnomAD 17-31155985-TCC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available