S5T (p.Ser5Thr) variant of MITF (O75030)
S5T (p.Ser5Thr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 3-69739610-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.12
- CADD 28.20
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available