A11G (p.Ala11Gly) variant of MAP2K2 (P36507)
A11G (p.Ala11Gly) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- rs1555699410
- ClinGen CA403396034
- ClinVar RCV000597450
- Ensembl rs1555699410
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.32
- AlphaMissense 0.29
- MetaLR 0.18
- MetaSVM -0.89
- CADD 22.00
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available