K74N (p.Lys74Asn) variant of ANKRD1 (Q15327)
K74N (p.Lys74Asn) in ANKRD1 (Q15327) 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 0.22 / 1. The record also includes population frequency data and structural context.
K74N (p.Lys74Asn) variant details
- p.Lys74Asn
- rs1403366948
- ClinGen CA377553031
- ClinVar RCV002428199
- TOPMed rs1403366948
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.56
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available