L4S (p.Leu4Ser) variant of TRMU (O75648)
L4S (p.Leu4Ser) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TRMU-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- rs1353951169
- ClinGen CA411938852
- ClinVar RCV003408543
- gnomAD rs1353951169
- Uncertain significance
- TRMU-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (TRMU-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available