Q102P (p.Gln102Pro) variant of CHD8 (Q9HCK8)
Q102P (p.Gln102Pro) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
Q102P (p.Gln102Pro) variant details
- p.Gln102Pro
- TOPMed rs1889555624
- gnomAD rs1889555624
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 20.30
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)