A10S (p.Ala10Ser) variant of TRMU (O75648)
A10S (p.Ala10Ser) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- rs11090865
- ClinGen CA114910
- cosmic curated COSV51990
- ClinVar RCV000001353
- Benign/Likely benign
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Benign/Likely benign (Acute infantile liver failure due to synthesis defect of mtDNA-e)
- EBI: Benign (acts as a disease modifier in patients with aminoglycoside-induc)
- UniProt: Benign (acts as a disease modifier in patients with aminoglycoside-induc)
- Most common in the Amish population (allele frequency 1)
- Structural context available
- Cited in: Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated… (PMID 16826519)
- Cited in: Acute infantile liver failure due to mutations in the TRMU gene. (PMID 19732863)