K64T (p.Lys64Thr) variant of ANKRD1 (Q15327)
K64T (p.Lys64Thr) 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 0.35 / 1. The record also includes published literature and structural context.
K64T (p.Lys64Thr) variant details
- p.Lys64Thr
- rs2120273578
- ClinGen CA377553306
- ClinVar RCV001905231
- Ensembl rs2120273578
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.15
- MetaLR 0.19
- MetaSVM -0.85
- PolyPhen-2 0.30
- SIFT 0.08
- EVE 0.16
- 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)