Q42R (p.Gln42Arg) variant of ANKRD1 (Q15327)
Q42R (p.Gln42Arg) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. 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.
Q42R (p.Gln42Arg) variant details
- p.Gln42Arg
- rs1408164414
- ClinGen CA377553804
- ClinVar RCV001765165
- ClinVar RCV002425042
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available