K56N (p.Lys56Asn) variant of TECRL (Q5HYJ1)
K56N (p.Lys56Asn) 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 0.20 / 1. The record also includes population frequency data and structural context.
K56N (p.Lys56Asn) variant details
- p.Lys56Asn
- rs2475861314
- ClinGen CA357148997
- ClinVar RCV004096933
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 21.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available