S5L (p.Ser5Leu) variant of MITF (O75030)
S5L (p.Ser5Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- cosmic curated COSV10888
- TOPMed rs1413689457
- gnomAD rs1413689457
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.24
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available