V37L (p.Val37Leu) variant of MEF2C (Q06413)
V37L (p.Val37Leu) in MEF2C (Q06413) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- rs765658557
- NCI-TCGA Cosmic COSV6093
- cosmic curated COSV60932
- ExAC rs765658557
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available