A11V (p.Ala11Val) variant of MAP2K2 (P36507)
A11V (p.Ala11Val) 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 0.45 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- Ensembl rs1555699410
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.33
- AlphaMissense 0.41
- MetaLR 0.17
- MetaSVM -0.89
- CADD 22.80
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available