E152D (p.Glu152Asp) variant of CHM (P24386)
E152D (p.Glu152Asp) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E152D (p.Glu152Asp) variant details
- p.Glu152Asp
- TOPMed rs1215527436
- gnomAD rs1215527436
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.06
- MetaLR 0.45
- MetaSVM -0.63
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available