V10I (p.Val10Ile) variant of ANKRD1 (Q15327)
V10I (p.Val10Ile) 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; Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs757040674
- ClinGen CA5598856
- ClinVar RCV003071722
- ClinVar RCV003443117
- Uncertain significance
- not provided; Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.35
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; ANKRD1-related dilated c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)