R61H (p.Arg61His) variant of SLC22A1 (O15245)
R61H (p.Arg61His) in SLC22A1 (O15245) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- rs145649236
- 1000Genomes rs145649236
- ESP rs145649236
- ExAC rs145649236
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.34
- CADD 23.40
- PolyPhen-2 0.43
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available