G111D (p.Gly111Asp) variant of TECRL (Q5HYJ1)
G111D (p.Gly111Asp) 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.
G111D (p.Gly111Asp) variant details
- p.Gly111Asp
- rs1717997596
- ClinGen CA357144898
- cosmic curated COSV10469
- ClinVar RCV004355422
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -0.87
- PolyPhen-2 0.58
- SIFT 0.23
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available