R16L (p.Arg16Leu) variant of ABCC8 (Q09428)
R16L (p.Arg16Leu) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- cosmic curated COSV56855
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.29
- CADD 24.80
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available