R7K (p.Arg7Lys) variant of FOXG1 (Forkhead box protein G1)
R7K (p.Arg7Lys) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- Ensembl rs2138659891
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available