R50H (p.Arg50His) variant of SLC22A2 (O15244)
R50H (p.Arg50His) in SLC22A2 (O15244) 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 0.09 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs773374729
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- ExAC rs773374729
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0922
- REVEL 0.11
- CADD 0.14
- PolyPhen-2 0.01
- SIFT 0.59
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available