R58H (p.Arg58His) variant of PLAT (P00750)
R58H (p.Arg58His) in PLAT (P00750) 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 0.59 / 1. The record also includes population frequency data and structural context.
R58H (p.Arg58His) variant details
- p.Arg58His
- NCI-TCGA Cosmic COSV5427
- cosmic curated COSV54277
- Ensembl rs1805590323
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.46
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available