D18N (p.Asp18Asn) variant of NF1 (Neurofibromin)
D18N (p.Asp18Asn) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- Ensembl rs2143145613
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.12
- CADD 27.50
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available