P42L (p.Pro42Leu) variant of FOXP1 (Forkhead box protein P1)
P42L (p.Pro42Leu) 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 0.68 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs766294895
- ClinGen CA2491453
- ClinVar RCV002962014
- ExAC rs766294895
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00035)
- Structural context available