G14R (p.Gly14Arg) variant of MITF (O75030)
G14R (p.Gly14Arg) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- 1000Genomes rs202028114
- ExAC rs202028114
- gnomAD rs202028114
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.21
- SIFT 0.05
- Population evidence available
- Structural context available