P121R (p.Pro121Arg) variant of SLC22A2 (O15244)
P121R (p.Pro121Arg) in SLC22A2 (O15244) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes population frequency data and structural context.
P121R (p.Pro121Arg) variant details
- p.Pro121Arg
- rs773192589
- ClinGen CA4084706
- ClinVar RCV004236266
- ExAC rs773192589
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.22
- CADD 19.80
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available