H6R (p.His6Arg) variant of TRMU (O75648)
H6R (p.His6Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H6R (p.His6Arg) variant details
- p.His6Arg
- rs999326883
- ClinGen CA325155200
- ClinVar RCV002261647
- TOPMed rs999326883
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available