G53S (p.Gly53Ser) variant of APOL1 (Apolipoprotein L1)
G53S (p.Gly53Ser) in APOL1 (Apolipoprotein L1) 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 0.10 / 1. The record also includes population frequency data and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs766338763
- ClinGen CA10208537
- ClinVar RCV003090492
- ExAC rs766338763
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0956
- REVEL 0.12
- CADD 0.45
- PolyPhen-2 0.94
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available