A3T (p.Ala3Thr) variant of MAP2K2 (P36507)
A3T (p.Ala3Thr) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- TOPMed rs1399102007
- gnomAD rs1399102007
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available