F130Y (p.Phe130Tyr) variant of ABCC9 (O60706)
F130Y (p.Phe130Tyr) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
F130Y (p.Phe130Tyr) variant details
- p.Phe130Tyr
- gnomAD rs1305902300
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.77
- CADD 25.00
- PolyPhen-2 0.73
- SIFT 0.15
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available