L27S (p.Leu27Ser) variant of MITF (O75030)
L27S (p.Leu27Ser) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L27S (p.Leu27Ser) variant details
- p.Leu27Ser
- gnomAD 3-69763918-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 6.58
- Population evidence available
- Structural context available
- Literature evidence available