Q30R (p.Gln30Arg) variant of MITF (O75030)
Q30R (p.Gln30Arg) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- TOPMed rs1346042841
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 25.40
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available