I8S (p.Ile8Ser) variant of TMC1 (Q8TDI8)
I8S (p.Ile8Ser) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I8S (p.Ile8Ser) variant details
- p.Ile8Ser
- rs727504554
- gnomAD 9-72688711-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available