S79T (p.Ser79Thr) variant of ANKRD1 (Q15327)
S79T (p.Ser79Thr) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S79T (p.Ser79Thr) variant details
- p.Ser79Thr
- rs1028976027
- ClinGen CA211424909
- ClinVar RCV003529525
- gnomAD rs1028976027
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.10
- SIFT 0.45
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)