I8N (p.Ile8Asn) variant of TMC1 (Q8TDI8)
I8N (p.Ile8Asn) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I8N (p.Ile8Asn) variant details
- p.Ile8Asn
- ESP rs372383725
- ExAC rs372383725
- TOPMed rs372383725
- gnomAD rs372383725
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 26.30
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available