R73K (p.Arg73Lys) variant of TMC1 (Q8TDI8)
R73K (p.Arg73Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R73K (p.Arg73Lys) variant details
- p.Arg73Lys
- gnomAD rs1369129879
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available