T73A (p.Thr73Ala) variant of CHD8 (Q9HCK8)
T73A (p.Thr73Ala) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- TOPMed rs932374041
- gnomAD rs932374041
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 0.00022)