L12H (p.Leu12His) variant of MAP2K2 (P36507)
L12H (p.Leu12His) in MAP2K2 (P36507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L12H (p.Leu12His) variant details
- p.Leu12His
- Ensembl rs2145089922
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.45
- CADD 30.00
- PolyPhen-2 0.65
- SIFT 0.03
- Population evidence available
- Structural context available