T4M (p.Thr4Met) variant of CLDN14 (Claudin-14)
T4M (p.Thr4Met) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Autosomal recessive nonsyndromic hearing loss 29. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T4M (p.Thr4Met) variant details
- p.Thr4Met
- rs113831133
- ClinGen CA133522
- cosmic curated COSV10740
- ClinVar RCV000037059
- Benign/Likely benign
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 29
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.17
- CADD 9.58
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Benign/Likely benign (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Benign (in dbSNP:rs113831133)
- UniProt: Benign (in dbSNP:rs113831133)
- Population evidence available
- Structural context available
- Cited in: Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing… (PMID 12791041)
- Cited in: Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss. (PMID 23590985)