E9V (p.Glu9Val) variant of FOXG1 (Forkhead box protein G1)
E9V (p.Glu9Val) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- gnomAD 14-28767305-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.02
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available