E43K (p.Glu43Lys) variant of FOXP2 (Forkhead box protein P2)
E43K (p.Glu43Lys) in FOXP2 (Forkhead box protein P2) 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 and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- gnomAD rs1244944146
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.26
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available