L12F (p.Leu12Phe) variant of MAP2K2 (P36507)
L12F (p.Leu12Phe) in MAP2K2 (P36507) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- Ensembl rs2041335933
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.32
- CADD 24.90
- PolyPhen-2 0.25
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available