S29V (p.Ser29Val) variant of MITF (O75030)
S29V (p.Ser29Val) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S29V (p.Ser29Val) variant details
- p.Ser29Val
- gnomAD 3-69739678-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available