L37Q (p.Leu37Gln) variant of MAP2K2 (P36507)
L37Q (p.Leu37Gln) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
L37Q (p.Leu37Gln) variant details
- p.Leu37Gln
- rs2145080869
- ClinGen CA403392958
- ClinVar RCV003540370
- ClinVar RCV004369442
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.96
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available