T527P (p.Thr527Pro) variant of SLC26A4 (Pendrin)
T527P (p.Thr527Pro) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T527P (p.Thr527Pro) variant details
- p.Thr527Pro
- rs1554360358
- ClinGen CA368841594
- ClinVar RCV000515726
- ClinVar RCV000668348
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.90
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)