Q2R (p.Gln2Arg) variant of MITF (O75030)
Q2R (p.Gln2Arg) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- gnomAD 3-69739602-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.26
- CADD 24.70
- PolyPhen-2 0.90
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available