S79P (p.Ser79Pro) variant of CHD8 (Q9HCK8)
S79P (p.Ser79Pro) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
S79P (p.Ser79Pro) variant details
- p.Ser79Pro
- TOPMed rs1347356706
- gnomAD rs1347356706
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)