A12D (p.Ala12Asp) variant of NF1 (Neurofibromin)
A12D (p.Ala12Asp) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 17-31095344-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- MetaLR 0.06
- MetaSVM -1.13
- CADD 23.70
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available