T416P (p.Thr416Pro) variant of SLC26A4 (Pendrin)
T416P (p.Thr416Pro) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SLC26A4-related disorder; Rare genetic deafness; Monogenic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T416P (p.Thr416Pro) variant details
- p.Thr416Pro
- rs28939086
- ClinGen CA261404
- ClinVar RCV000005087
- ClinVar RCV000036432
- Pathogenic
- SLC26A4-related disorder; Rare genetic deafness; Monogenic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (SLC26A4-related disorder; Rare genetic deafness; Monogenic heari)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. (PMID 10700480)
- Cited in: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype… (PMID 11317356)