P121L (p.Pro121Leu) variant of SLC22A2 (O15244)
P121L (p.Pro121Leu) in SLC22A2 (O15244) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P121L (p.Pro121Leu) variant details
- p.Pro121Leu
- ExAC rs773192589
- TOPMed rs773192589
- gnomAD rs773192589
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- CADD 24.10
- PolyPhen-2 0.69
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available