S29G (p.Ser29Gly) variant of MITF (O75030)
S29G (p.Ser29Gly) in MITF (O75030) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S29G (p.Ser29Gly) variant details
- p.Ser29Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available