L42R (p.Leu42Arg) variant of SLC22A1 (O15245)
L42R (p.Leu42Arg) in SLC22A1 (O15245) 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 0.62 / 1. The record also includes population frequency data and structural context.
L42R (p.Leu42Arg) variant details
- p.Leu42Arg
- rs778919765
- ClinGen CA4083598
- ClinVar RCV004283680
- ExAC rs778919765
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.83
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00038)
- Structural context available