A32S (p.Ala32Ser) variant of MAP2K2 (P36507)
A32S (p.Ala32Ser) 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 0.37 / 1. The record also includes population frequency data and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- gnomAD rs866862003
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.26
- CADD 16.50
- PolyPhen-2 0.26
- SIFT 0.26
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available