I150V (p.Ile150Val) variant of ABCC9 (O60706)
I150V (p.Ile150Val) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wolff-Parkinson-White pattern. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I150V (p.Ile150Val) variant details
- p.Ile150Val
- rs1555117063
- ClinGen CA384125776
- ClinVar RCV000656179
- Ensembl rs1555117063
- Uncertain significance
- Wolff-Parkinson-White pattern
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.58
- CADD 19.20
- PolyPhen-2 0.09
- SIFT 0.17
- ClinVar: Uncertain significance (Wolff-Parkinson-White pattern)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available