P86S (p.Pro86Ser) variant of MMUT (P22033)
P86S (p.Pro86Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, 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 0.87 / 1. The record also includes population frequency data and structural context.
P86S (p.Pro86Ser) variant details
- p.Pro86Ser
- ExAC rs772660572
- gnomAD rs772660572
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.95
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available