V37I (p.Val37Ile) variant of ANKRD1 (Q15327)
V37I (p.Val37Ile) 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; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs1401851050
- ClinGen CA377553891
- ClinVar RCV001256725
- ClinVar RCV003528282
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.08
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy; Hypertrophic cardiomyopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)