K104N (p.Lys104Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
K104N (p.Lys104Asn) in NKX2-5 (Homeobox protein Nkx-2.5) 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 0.36 / 1. The record also includes population frequency data and structural context.
K104N (p.Lys104Asn) variant details
- p.Lys104Asn
- rs774878026
- ClinVar RCV005405010
- ExAC rs774878026
- TOPMed rs774878026
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.64
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available