L26I (p.Leu26Ile) variant of FOXP1 (Forkhead box protein P1)
L26I (p.Leu26Ile) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
L26I (p.Leu26Ile) variant details
- p.Leu26Ile
- rs533097431
- ClinGen CA353565175
- ClinVar RCV002296579
- 1000Genomes rs533097431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 20.60
- PolyPhen-2 0.07
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available