S3T (p.Ser3Thr) variant of MITF (O75030)
S3T (p.Ser3Thr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S3T (p.Ser3Thr) variant details
- p.Ser3Thr
- gnomAD 3-69739604-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.09
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available