P99A (p.Pro99Ala) variant of ABCG2 (Q9UNQ0)
P99A (p.Pro99Ala) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P99A (p.Pro99Ala) variant details
- p.Pro99Ala
- TOPMed rs1305398818
- gnomAD rs1305398818
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.55
- CADD 24.40
- PolyPhen-2 0.86
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available