I35V (p.Ile35Val) variant of ABCA1 (O95477)
I35V (p.Ile35Val) in ABCA1 (O95477) 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 0.49 / 1. The record also includes population frequency data and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- rs138992952
- ClinGen CA5169491
- ClinVar RCV001906801
- ClinVar RCV005308583
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available