P12L (p.Pro12Leu) variant of FOXI1 (Forkhead box protein I1)
P12L (p.Pro12Leu) 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 0.49 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- 1000Genomes rs749208705
- ExAC rs749208705
- gnomAD rs749208705
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available