K8Q (p.Lys8Gln) variant of FOXG1 (Forkhead box protein G1)
K8Q (p.Lys8Gln) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K8Q (p.Lys8Gln) variant details
- p.Lys8Gln
- gnomAD 14-28767301-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.41
- MetaLR 0.76
- MetaSVM 0.57
- CADD 22.20
- PolyPhen-2 0.23
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available