Q119R (p.Gln119Arg) variant of CHM (P24386)
Q119R (p.Gln119Arg) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q119R (p.Gln119Arg) variant details
- p.Gln119Arg
- rs1930445185
- ClinGen CA413787366
- ClinVar RCV002028458
- gnomAD rs1930445185
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.87
- CADD 21.20
- PolyPhen-2 0.61
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available