Y123C (p.Tyr123Cys) variant of MMUT (P22033)
Y123C (p.Tyr123Cys) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y123C (p.Tyr123Cys) variant details
- p.Tyr123Cys
- gnomAD rs1312660252
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.92
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available