R100S (p.Arg100Ser) variant of ANKRD1 (Q15327)
R100S (p.Arg100Ser) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R100S (p.Arg100Ser) variant details
- p.Arg100Ser
- rs1323094013
- ClinGen CA377552494
- ClinVar RCV000654869
- ClinVar RCV002440393
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)