V13I (p.Val13Ile) variant of MITF (O75030)
V13I (p.Val13Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V13I (p.Val13Ile) variant details
- p.Val13Ile
- gnomAD rs1420140107
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.14
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available