P99S (p.Pro99Ser) variant of ABCG2 (Q9UNQ0)
P99S (p.Pro99Ser) in ABCG2 (Q9UNQ0) 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 0.60 / 1. The record also includes population frequency data and structural context.
P99S (p.Pro99Ser) variant details
- p.Pro99Ser
- rs1305398818
- TOPMed rs1305398818
- gnomAD rs1305398818
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.55
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available