A20S (p.Ala20Ser) variant of ALDOB (Fructose-bisphosphate aldolase B)
A20S (p.Ala20Ser) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- rs575202673
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- 1000Genomes rs575202673
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available