P7T (p.Pro7Thr) variant of FOXI1 (Forkhead box protein I1)
P7T (p.Pro7Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- TOPMed rs1307118466
- gnomAD rs1307118466
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.20
- CADD 17.30
- PolyPhen-2 0.10
- SIFT 0.36
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available