A66T (p.Ala66Thr) variant of TMC1 (Q8TDI8)
A66T (p.Ala66Thr) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- 1000Genomes rs551184500
- ExAC rs551184500
- TOPMed rs551184500
- gnomAD rs551184500
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.06
- ESM-1b 0.11
- AlphaMissense 0.14
- CADD 21.50
- PolyPhen-2 0.17
- SIFT 0.51
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 7; Autosomal domin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available