A45S (p.Ala45Ser) variant of MMUT (P22033)
A45S (p.Ala45Ser) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- TOPMed rs1251816896
- gnomAD rs1251816896
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.30
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available