C9Y (p.Cys9Tyr) variant of TRMU (O75648)
C9Y (p.Cys9Tyr) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C9Y (p.Cys9Tyr) variant details
- p.Cys9Tyr
- ExAC rs760507725
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 28.50
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available