H18Q (p.His18Gln) variant of MITF (O75030)
H18Q (p.His18Gln) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H18Q (p.His18Gln) variant details
- p.His18Gln
- gnomAD 3-69739651-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.26
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available