I50V (p.Ile50Val) variant of ABCC6 (O95255)
I50V (p.Ile50Val) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudoxanthoma elasticum, forme fruste. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I50V (p.Ile50Val) variant details
- p.Ile50Val
- rs1334507946
- ClinGen CA395202401
- ClinVar RCV002290093
- ClinVar RCV004817006
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.02
- CADD 10.30
- PolyPhen-2 0.05
- SIFT 0.22
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)