P44L (p.Pro44Leu) variant of FOXI1 (Forkhead box protein I1)
P44L (p.Pro44Leu) in FOXI1 (Forkhead box protein I1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs142009641
- ClinGen CA3554960
- cosmic curated COSV10609
- ClinVar RCV000956919
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.54
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available