S5G (p.Ser5Gly) variant of MITF (O75030)
S5G (p.Ser5Gly) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs1198181906
- gnomAD 3-69866336-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available