G14S (p.Gly14Ser) variant of TRMU (O75648)
G14S (p.Gly14Ser) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs751248771
- ClinGen CA10291915
- ClinVar RCV000673121
- ClinVar RCV001756140
- Uncertain significance
- Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aminoglycoside-induced deafness; Acute infantile liver failure d)
- EBI: Variant of uncertain significance (in dbSNP:rs751248771)
- UniProt: Uncertain significance (in dbSNP:rs751248771)
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: Acute infantile liver failure due to mutations in the TRMU gene. (PMID 19732863)
- Cited in: TRMU Deficiency. (PMID 37184193)