Q7K (p.Gln7Lys) variant of TMC1 (Q8TDI8)
Q7K (p.Gln7Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD 9-72688711-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available