N54S (p.Asn54Ser) variant of SLC22A8 (Organic anion transporter 3)
N54S (p.Asn54Ser) in SLC22A8 (Organic anion transporter 3) 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 0.20 / 1. The record also includes population frequency data and structural context.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- 1000Genomes rs374281863
- ESP rs374281863
- ExAC rs374281863
- TOPMed rs374281863
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.02
- CADD 15.40
- PolyPhen-2 0.12
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available