P3L (p.Pro3Leu) variant of TMC1 (Q8TDI8)
P3L (p.Pro3Leu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- gnomAD rs1825753816
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available