R12L (p.Arg12Leu) variant of TECRL (Q5HYJ1)
R12L (p.Arg12Leu) 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 0.25 / 1. The record also includes structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- rs376067868
- ClinGen CA357149553
- ClinVar RCV003187104
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.03
- PolyPhen-2 0.86
- SIFT 0.24
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available