A43T (p.Ala43Thr) variant of SLC22A8 (Organic anion transporter 3)
A43T (p.Ala43Thr) in SLC22A8 (Organic anion transporter 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs200181297
- ClinGen CA6060004
- ClinVar RCV004285965
- 1000Genomes rs200181297
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.00
- CADD 1.89
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available