Q30H (p.Gln30His) variant of MITF (O75030)
Q30H (p.Gln30His) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- Ensembl rs2106732844
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available