T123M (p.Thr123Met) variant of ANKRD1 (Q15327)
T123M (p.Thr123Met) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T123M (p.Thr123Met) variant details
- p.Thr123Met
- rs145387010
- ClinGen CA245339
- ClinVar RCV000171828
- ClinVar RCV000183297
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.35
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.02
- CADD 2.40
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.0094)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)