L46V (p.Leu46Val) variant of MAP2K2 (P36507)
L46V (p.Leu46Val) in MAP2K2 (P36507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- TOPMed rs1057519809
- gnomAD rs1057519809
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available