L121P (p.Leu121Pro) variant of SLC22A8 (Organic anion transporter 3)
L121P (p.Leu121Pro) 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 0.65 / 1. The record also includes population frequency data and structural context.
L121P (p.Leu121Pro) variant details
- p.Leu121Pro
- rs752560586
- ExAC rs752560586
- TOPMed rs752560586
- gnomAD rs752560586
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.78
- MetaLR 0.59
- MetaSVM 0.13
- CADD 25.50
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available