N29S (p.Asn29Ser) variant of MAP2K1 (Q02750)
N29S (p.Asn29Ser) in MAP2K1 (Q02750) 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 0.35 / 1. The record also includes population frequency data and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- rs1277076291
- ClinGen CA392928883
- ClinVar RCV002909028
- TOPMed rs1277076291
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.32
- MetaLR 0.52
- MetaSVM -0.25
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.37
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-05)
- Structural context available