K41R (p.Lys41Arg) variant of ANKRD1 (Q15327)
K41R (p.Lys41Arg) 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 0.43 / 1. The record also includes published literature and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- rs1181229749
- ClinGen CA377553830
- ClinVar RCV001921834
- gnomAD rs1181229749
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.14
- MetaLR 0.40
- MetaSVM -0.44
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.27
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)