Q45R (p.Gln45Arg) variant of CHD7 (Q9P2D1)
Q45R (p.Gln45Arg) in CHD7 (Q9P2D1) 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 0.35 / 1. The record also includes population frequency data and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- ExAC rs745661321
- TOPMed rs745661321
- gnomAD rs745661321
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.88
- CADD 25.30
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available