A66P (p.Ala66Pro) variant of TMC1 (Q8TDI8)
A66P (p.Ala66Pro) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A66P (p.Ala66Pro) variant details
- p.Ala66Pro
- gnomAD 9-72694674-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 22.50
- PolyPhen-2 0.40
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available