Q65P (p.Gln65Pro) variant of ANKRD1 (Q15327)
Q65P (p.Gln65Pro) 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 provided; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q65P (p.Gln65Pro) variant details
- p.Gln65Pro
- rs759803899
- ClinGen CA5598824
- ClinVar RCV000521563
- ClinVar RCV002420320
- Uncertain significance
- Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; ANKRD1-related dilated c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)