K41R (p.Lys41Arg) variant of TMC1 (Q8TDI8)
K41R (p.Lys41Arg) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- gnomAD 9-72694597-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 22.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available