Y139N (p.Tyr139Asn) variant of ABCC6 (O95255)
Y139N (p.Tyr139Asn) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y139N (p.Tyr139Asn) variant details
- p.Tyr139Asn
- gnomAD rs2049007296
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.45
- CADD 29.30
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available