P6P (p.Pro6Pro) variant of NF1 (Neurofibromin)
P6P (p.Pro6Pro) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P6P (p.Pro6Pro) variant details
- p.Pro6Pro
- rs2143144771
- gnomAD 17-31095327-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available