R44L (p.Arg44Leu) variant of TMC1 (Q8TDI8)
R44L (p.Arg44Leu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- gnomAD 9-72694609-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 26.00
- PolyPhen-2 0.50
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available