R32Q (p.Arg32Gln) variant of CHM (P24386)
R32Q (p.Arg32Gln) in CHM (P24386) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- ESP rs371071459
- TOPMed rs371071459
- gnomAD rs371071459
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.88
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available