R61C (p.Arg61Cys) variant of SLC22A1 (O15245)
R61C (p.Arg61Cys) in SLC22A1 (O15245) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R61C (p.Arg61Cys) variant details
- p.Arg61Cys
- rs12208357
- cosmic curated COSV10587
- UniProt VAR 043321
- 1000Genomes rs12208357
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Amish population (allele frequency 0.11)
- Structural context available
- Cited in: Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences. (PMID 12439218)
- Cited in: Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. (PMID 12719534)