E84A (p.Glu84Ala) variant of CHM (P24386)
E84A (p.Glu84Ala) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E84A (p.Glu84Ala) variant details
- p.Glu84Ala
- rs2520318451
- ClinGen CA413787972
- ClinVar RCV002806953
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.34
- MetaLR 0.29
- MetaSVM -0.57
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available