P56L (p.Pro56Leu) variant of TMC1 (Q8TDI8)
P56L (p.Pro56Leu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- gnomAD rs1826519753
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 25.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available