T116M (p.Thr116Met) variant of ANKRD1 (Q15327)
T116M (p.Thr116Met) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T116M (p.Thr116Met) variant details
- p.Thr116Met
- rs142354133
- ClinGen CA5598747
- NCI-TCGA Cosmic COSV6331
- ClinVar RCV000215173
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.51
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.014)
- Structural context available
- Cited in: Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary… (PMID 18273862)
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)