A3V (p.Ala3Val) variant of MAP2K2 (P36507)
A3V (p.Ala3Val) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar 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.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- Ensembl rs587781030
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available