V106I (p.Val106Ile) variant of ANKRD1 (Q15327)
V106I (p.Val106Ile) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V106I (p.Val106Ile) variant details
- p.Val106Ile
- rs201056963
- ClinGen CA237037
- ClinVar RCV000171873
- ClinVar RCV004992048
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0945
- REVEL 0.03
- CADD 6.37
- PolyPhen-2 0.06
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available