S74A (p.Ser74Ala) variant of MMUT (P22033)
S74A (p.Ser74Ala) 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 0.51 / 1. The record also includes population frequency data and structural context.
S74A (p.Ser74Ala) variant details
- p.Ser74Ala
- ExAC rs777753506
- gnomAD rs777753506
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.52
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available