P38S (p.Pro38Ser) variant of MMUT (P22033)
P38S (p.Pro38Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- TOPMed rs1037540750
- gnomAD rs1037540750
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- CADD 21.50
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available