P26R (p.Pro26Arg) variant of FOXI1 (Forkhead box protein I1)
P26R (p.Pro26Arg) in FOXI1 (Forkhead box protein I1) 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 0.61 / 1. The record also includes population frequency data and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- rs373020583
- ClinGen CA3554948
- ClinVar RCV001929987
- ESP rs373020583
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.50
- CADD 24.10
- PolyPhen-2 0.94
- 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 0.00015)
- Structural context available