S46R (p.Ser46Arg) variant of ABCG5 (Q9H222)
S46R (p.Ser46Arg) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- cosmic curated COSV53211
- ExAC rs775574718
- TOPMed rs775574718
- gnomAD rs775574718
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 11.70
- PolyPhen-2 0.67
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available