H54R (p.His54Arg) variant of TECRL (Q5HYJ1)
H54R (p.His54Arg) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
H54R (p.His54Arg) variant details
- p.His54Arg
- rs768151844
- ClinGen CA357149026
- ClinVar RCV002401031
- ExAC rs768151844
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -0.86
- PolyPhen-2 0.84
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available