E16K (p.Glu16Lys) variant of TMC1 (Q8TDI8)
E16K (p.Glu16Lys) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Autosomal dominant nonsyndromic hearing loss 36. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs140437301
- ClinGen CA5081583
- cosmic curated COSV99920
- ClinVar RCV001166567
- Uncertain significance
- not specified; not provided; Autosomal dominant nonsyndromic hearing loss 36
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (not specified; not provided; Autosomal dominant nonsyndromic hea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00062)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)