V41M (p.Val41Met) variant of FOXI1 (Forkhead box protein I1)
V41M (p.Val41Met) 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 0.19 / 1. The record also includes population frequency data and structural context.
V41M (p.Val41Met) variant details
- p.Val41Met
- ExAC rs768660570
- TOPMed rs768660570
- gnomAD rs768660570
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.15
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available