S17G (p.Ser17Gly) variant of TRMU (O75648)
S17G (p.Ser17Gly) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- TOPMed rs1388348321
- gnomAD rs1388348321
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available