R25K (p.Arg25Lys) variant of TRMU (O75648)
R25K (p.Arg25Lys) 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; TRMU-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- rs1569057032
- ClinGen CA411939181
- ClinVar RCV000729340
- ClinVar RCV003420292
- Uncertain significance
- not provided; TRMU-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; TRMU-related disorder)
- EBI: Variant of uncertain significance (in dbSNP:rs2272938)
- UniProt: Uncertain significance (in dbSNP:rs2272938)
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available