R78S (p.Arg78Ser) variant of ANKRD1 (Q15327)
R78S (p.Arg78Ser) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R78S (p.Arg78Ser) variant details
- p.Arg78Ser
- rs141376679
- ClinGen CA175250
- ClinVar RCV000150160
- ClinVar RCV000560866
- Uncertain significance
- Cardiovascular phenotype; not specified; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.43
- CADD 25.40
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; ANKRD1-related dilated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)