V64A (p.Val64Ala) variant of MAP2K2 (P36507)
V64A (p.Val64Ala) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- rs1135401787
- ClinGen CA403392662
- ClinVar RCV004096105
- gnomAD rs1135401787
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.72
- AlphaMissense 0.72
- MetaLR 0.70
- MetaSVM 0.50
- CADD 24.60
- PolyPhen-2 0.77
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available