Q21R (p.Gln21Arg) variant of ANK2 (Ankyrin-2)
Q21R (p.Gln21Arg) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- ESP rs147439862
- ExAC rs147439862
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.43
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.826