R4L (p.Arg4Leu) variant of ALDOB (Fructose-bisphosphate aldolase B)
R4L (p.Arg4Leu) in ALDOB (Fructose-bisphosphate aldolase B) 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.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- ExAC rs767812270
- gnomAD rs767812270
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)