E113G (p.Glu113Gly) variant of CHM (P24386)
E113G (p.Glu113Gly) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
E113G (p.Glu113Gly) variant details
- p.Glu113Gly
- rs779923029
- ClinGen CA10465589
- ClinVar RCV001463171
- ExAC rs779923029
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.38
- MetaLR 0.30
- MetaSVM -0.45
- CADD 24.60
- PolyPhen-2 0.87
- SIFT 0.15
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available