H18R (p.His18Arg) variant of MITF (O75030)
H18R (p.His18Arg) in MITF (O75030) 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 0.29 / 1. The record also includes population frequency data and structural context.
H18R (p.His18Arg) variant details
- p.His18Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.13
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available