Q85H (p.Gln85His) variant of CHD7 (Q9P2D1)
Q85H (p.Gln85His) in CHD7 (Q9P2D1) 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 0.41 / 1. The record also includes population frequency data and structural context.
Q85H (p.Gln85His) variant details
- p.Gln85His
- TOPMed rs1809024397
- gnomAD rs1809024397
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.19
- MetaLR 0.26
- MetaSVM -0.60
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available