S44A (p.Ser44Ala) variant of ABCG5 (Q9H222)
S44A (p.Ser44Ala) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S44A (p.Ser44Ala) variant details
- p.Ser44Ala
- TOPMed rs1001173239
- gnomAD rs1001173239
- Likely pathogenic
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 24.10
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Likely pathogenic (Sitosterolemia)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available