R25S (p.Arg25Ser) variant of TRMU (O75648)
R25S (p.Arg25Ser) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Acute infantile liver failure due to synthesis defe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- rs2272938
- ClinGen CA302704
- ClinVar RCV000173460
- ClinVar RCV000349987
- Benign
- not specified; not provided; Acute infantile liver failure due to synthesis defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Benign (not specified; not provided; Acute infantile liver failure due t)
- EBI: Benign (in dbSNP:rs2272938)
- UniProt: Benign (in dbSNP:rs2272938)
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available
- Cited in: TRMU Deficiency. (PMID 37184193)