I33T (p.Ile33Thr) variant of CHD8 (Q9HCK8)
I33T (p.Ile33Thr) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- TOPMed rs1324228621
- gnomAD rs1324228621
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 25.00
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)