T91I (p.Thr91Ile) variant of CHD8 (Q9HCK8)
T91I (p.Thr91Ile) in CHD8 (Q9HCK8) 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 0.63 / 1. The record also includes population frequency data.
T91I (p.Thr91Ile) variant details
- p.Thr91Ile
- gnomAD rs1186653883
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)