R97L (p.Arg97Leu) variant of ABCC9 (O60706)
R97L (p.Arg97Leu) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R97L (p.Arg97Leu) variant details
- p.Arg97Leu
- cosmic curated COSV53976
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.39
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.015)
- Structural context available