P13S (p.Pro13Ser) variant of MMUT (P22033)
P13S (p.Pro13Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- ExAC rs771672322
- gnomAD rs771672322
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.34
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available