C85Y (p.Cys85Tyr) variant of ABCC9 (O60706)
C85Y (p.Cys85Tyr) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
C85Y (p.Cys85Tyr) variant details
- p.Cys85Tyr
- cosmic curated COSV99688
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.88
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the HGDP:SARDINIAN population (allele frequency 0.037)
- Structural context available