A12S (p.Ala12Ser) variant of NF1 (Neurofibromin)
A12S (p.Ala12Ser) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 17-31095343-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.01
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available