K56T (p.Lys56Thr) variant of TECRL (Q5HYJ1)
K56T (p.Lys56Thr) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K56T (p.Lys56Thr) variant details
- p.Lys56Thr
- rs1029931574
- ClinGen CA98684052
- ClinVar RCV004142951
- TOPMed rs1029931574
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available