A19S (p.Ala19Ser) variant of MAP2K2 (P36507)
A19S (p.Ala19Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- rs2145089839
- ClinGen CA403395988
- ClinVar RCV003539541
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available