A106T (p.Ala106Thr) variant of CHD8 (Q9HCK8)
A106T (p.Ala106Thr) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
A106T (p.Ala106Thr) variant details
- p.Ala106Thr
- ExAC rs774056562
- gnomAD rs774056562
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 1.7e-05)