F572L (p.Phe572Leu) variant of SLC26A4 (Pendrin)
F572L (p.Phe572Leu) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
F572L (p.Phe572Leu) variant details
- p.Phe572Leu
- rs2129318096
- ClinGen CA368842831
- ClinVar RCV002051741
- ClinVar RCV004770190
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)