E144G (p.Glu144Gly) variant of CHM (P24386)
E144G (p.Glu144Gly) 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 0.30 / 1. The record also includes population frequency data and structural context.
E144G (p.Glu144Gly) variant details
- p.Glu144Gly
- rs2520273268
- ClinGen CA413787204
- ClinVar RCV002975782
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.02
- MetaLR 0.14
- MetaSVM -0.95
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available