A29S (p.Ala29Ser) variant of MAP2K2 (P36507)
A29S (p.Ala29Ser) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Noonan syndrome and Noonan-related syndrome. 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.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- rs770134564
- ClinGen CA9091102
- ClinVar RCV001813679
- ClinVar RCV005095229
- Uncertain significance
- RASopathy; Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.26
- AlphaMissense 0.13
- MetaLR 0.32
- MetaSVM -0.34
- CADD 18.10
- PolyPhen-2 0.66
- ClinVar: Uncertain significance (RASopathy; Noonan syndrome and Noonan-related syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available