F335V (p.Phe335Val) variant of SLC26A4 (Pendrin)
F335V (p.Phe335Val) 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; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F335V (p.Phe335Val) variant details
- p.Phe335Val
- rs111033212
- ClinGen CA368838305
- ClinVar RCV001580202
- 1000Genomes rs111033212
- Likely pathogenic
- Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.94
- ESM-1b 0.55
- AlphaMissense 0.80
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Pendred syndrome; Autosomal recessive nonsyndromic hearing loss)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)