K8R (p.Lys8Arg) variant of FOXG1 (Forkhead box protein G1)
K8R (p.Lys8Arg) 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.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- gnomAD 14-28767302-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.42
- MetaLR 0.74
- MetaSVM 0.51
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available