I18V (p.Ile18Val) variant of MAP2K2 (P36507)
I18V (p.Ile18Val) 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 0.20 / 1. The record also includes population frequency data and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- ExAC rs774968670
- gnomAD rs774968670
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.12
- AlphaMissense 0.05
- MetaLR 0.13
- MetaSVM -1.11
- CADD 15.20
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available