T63N (p.Thr63Asn) variant of MMUT (P22033)
T63N (p.Thr63Asn) in MMUT (P22033) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
T63N (p.Thr63Asn) variant details
- p.Thr63Asn
- TOPMed rs1767776360
- gnomAD rs1767776360
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.94
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available