P21L (p.Pro21Leu) variant of MITF (O75030)
P21L (p.Pro21Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD 3-69739659-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.18
- CADD 24.50
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available