Y31C (p.Tyr31Cys) variant of FOXI1 (Forkhead box protein I1)
Y31C (p.Tyr31Cys) in FOXI1 (Forkhead box protein I1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
Y31C (p.Tyr31Cys) variant details
- p.Tyr31Cys
- rs777573595
- ClinGen CA3554954
- ClinVar RCV001375208
- ExAC rs777573595
- Likely pathogenic
- Hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.90
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hearing impairment)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available