L26V (p.Leu26Val) variant of FOXP1 (Forkhead box protein P1)
L26V (p.Leu26Val) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- 1000Genomes rs533097431
- ExAC rs533097431
- gnomAD rs533097431
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available