D66G (p.Asp66Gly) variant of TECRL (Q5HYJ1)
D66G (p.Asp66Gly) 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 0.52 / 1. The record also includes population frequency data and structural context.
D66G (p.Asp66Gly) variant details
- p.Asp66Gly
- rs2475860946
- ClinGen CA357148820
- ClinVar RCV002423643
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 25.70
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available