K72N (p.Lys72Asn) variant of ANKRD1 (Q15327)
K72N (p.Lys72Asn) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
K72N (p.Lys72Asn) variant details
- p.Lys72Asn
- rs1847407710
- ClinGen CA377553064
- NCI-TCGA Cosmic COSV6331
- ClinVar RCV001315490
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.36
- MetaLR 0.18
- MetaSVM -0.84
- PolyPhen-2 0.93
- SIFT 0.03
- EVE 0.10
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)