M13T (p.Met13Thr) variant of SLC22A8 (Organic anion transporter 3)
M13T (p.Met13Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
M13T (p.Met13Thr) variant details
- p.Met13Thr
- gnomAD rs1255368685
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.03
- CADD 6.53
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available