V85D (p.Val85Asp) variant of CLDN14 (Claudin-14)
V85D (p.Val85Asp) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V85D (p.Val85Asp) variant details
- p.Val85Asp
- rs74315437
- ClinGen CA117103
- ClinVar RCV000005124
- ClinVar RCV000417144
- Pathogenic
- Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.95
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Perrault syndrome)
- EBI: Pathogenic (in DFNB29)
- UniProt: Pathogenic (in DFNB29)
- Population evidence available
- Structural context available
- Cited in: Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. (PMID 11163249)
- Cited in: Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. (PMID 15880785)