K5Q (p.Lys5Gln) variant of ANKRD1 (Q15327)
K5Q (p.Lys5Gln) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K5Q (p.Lys5Gln) variant details
- p.Lys5Gln
- rs2492964545
- ClinGen CA377554393
- ClinVar RCV003046846
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (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)