Q65K (p.Gln65Lys) variant of ANKRD1 (Q15327)
Q65K (p.Gln65Lys) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q65K (p.Gln65Lys) variant details
- p.Gln65Lys
- rs139169078
- ClinGen CA211425666
- ClinVar RCV001044105
- ClinVar RCV001569814
- Conflicting interpretations
- not specified; not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; ANKRD1-related dilated cardiomyopat)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)