R100K (p.Arg100Lys) variant of ANKRD1 (Q15327)
R100K (p.Arg100Lys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R100K (p.Arg100Lys) variant details
- p.Arg100Lys
- rs866997710
- ClinGen CA211424881
- ClinVar RCV002435585
- ClinVar RCV005255719
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available