T97A (p.Thr97Ala) variant of CHD8 (Q9HCK8)
T97A (p.Thr97Ala) in CHD8 (Q9HCK8) 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 0.55 / 1. The record also includes population frequency data.
T97A (p.Thr97Ala) variant details
- p.Thr97Ala
- rs1594379991
- ClinGen CA388889741
- ClinVar RCV003577545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)