A3S (p.Ala3Ser) variant of NF1 (Neurofibromin)
A3S (p.Ala3Ser) 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, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 17-31095316-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.16
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available