N17D (p.Asn17Asp) variant of ANKRD1 (Q15327)
N17D (p.Asn17Asp) 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; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N17D (p.Asn17Asp) variant details
- p.Asn17Asp
- rs1057522674
- ClinGen CA16605734
- ClinVar RCV000424331
- ClinVar RCV001313194
- Uncertain significance
- not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.07
- CADD 9.40
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (not provided; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)