N33H (p.Asn33His) variant of MAP2K2 (P36507)
N33H (p.Asn33His) 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 0.52 / 1. The record also includes structural context.
N33H (p.Asn33His) variant details
- p.Asn33His
- rs2145080951
- ClinGen CA403393003
- NCI-TCGA Cosmic COSV5356
- ClinVar RCV003852400
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.15
- MetaLR 0.73
- MetaSVM 0.13
- PolyPhen-2 0.47
- SIFT 0.34
- EVE 0.12
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available