S17L (p.Ser17Leu) variant of FOXG1 (Forkhead box protein G1)
S17L (p.Ser17Leu) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- gnomAD 14-28767329-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.19
- MetaLR 0.11
- MetaSVM -0.87
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available