Q51K (p.Gln51Lys) variant of CHD8 (Q9HCK8)
Q51K (p.Gln51Lys) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
Q51K (p.Gln51Lys) variant details
- p.Gln51Lys
- ExAC rs765594505
- gnomAD rs765594505
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the South Asian population (allele frequency 2.5e-05)