W49R (p.Trp49Arg) variant of ABCC9 (O60706)
W49R (p.Trp49Arg) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
W49R (p.Trp49Arg) variant details
- p.Trp49Arg
- gnomAD rs1949382458
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.88
- CADD 27.20
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available