N32D (p.Asn32Asp) variant of TECRL (Q5HYJ1)
N32D (p.Asn32Asp) 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 0.24 / 1. The record also includes structural context.
N32D (p.Asn32Asp) variant details
- p.Asn32Asp
- rs1724940055
- ClinGen CA357149314
- ClinVar RCV004521034
- TOPMed rs1724940055
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available