T508A (p.Thr508Ala) variant of SLC26A4 (Pendrin)
T508A (p.Thr508Ala) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Autosomal recessive nonsyndromic hearing loss 4; Pendred. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
T508A (p.Thr508Ala) variant details
- p.Thr508Ala
- rs727505088
- ClinGen CA185015
- ClinVar RCV000156529
- ClinVar RCV000675175
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Autosomal recessive nonsyndromic hearing loss 4; Pendred
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- ESM-1b 0.83
- AlphaMissense 0.16
- MetaLR 0.90
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Autosomal recessive nonsyndromic hearing)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)