V41L (p.Val41Leu) variant of FOXI1 (Forkhead box protein I1)
V41L (p.Val41Leu) in FOXI1 (Forkhead box protein I1) 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 0.19 / 1. The record also includes population frequency data and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- ExAC rs768660570
- TOPMed rs768660570
- gnomAD rs768660570
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.17
- CADD 2.98
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available