P45S (p.Pro45Ser) variant of ABCC2 (Q92887)
P45S (p.Pro45Ser) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- gnomAD rs1443387807
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.20
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available