G51R (p.Gly51Arg) variant of FOXI1 (Forkhead box protein I1)
G51R (p.Gly51Arg) 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 Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G51R (p.Gly51Arg) variant details
- p.Gly51Arg
- 1000Genomes rs547608599
- ExAC rs547608599
- TOPMed rs547608599
- gnomAD rs547608599
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.13
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available