D15D (p.Asp15Asp) variant of TMC1 (Q8TDI8)
D15D (p.Asp15Asp) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D15D (p.Asp15Asp) variant details
- p.Asp15Asp
- rs2589615
- gnomAD 9-72688737-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0856
- CADD 0.70
- Most common in the 1KG:MSL population (allele frequency 0.87)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23… (PMID 24416283)