S43R (p.Ser43Arg) variant of FOXI1 (Forkhead box protein I1)
S43R (p.Ser43Arg) in FOXI1 (Forkhead box protein I1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- TOPMed rs1022683356
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.52
- CADD 22.80
- PolyPhen-2 0.67
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available