T123K (p.Thr123Lys) variant of ANKRD1 (Q15327)
T123K (p.Thr123Lys) 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 0.31 / 1. The record also includes published literature and structural context.
T123K (p.Thr123Lys) variant details
- p.Thr123Lys
- rs145387010
- ClinGen CA377552340
- ClinVar RCV002049380
- 1000Genomes rs145387010
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.19
- EVE 0.11
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)