P104S (p.Pro104Ser) variant of MMUT (P22033)
P104S (p.Pro104Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P104S (p.Pro104Ser) variant details
- p.Pro104Ser
- 1000Genomes rs537995137
- ExAC rs537995137
- gnomAD rs537995137
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available