P4S (p.Pro4Ser) variant of CHD8 (Q9HCK8)
P4S (p.Pro4Ser) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- gnomAD rs1413418252
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 25.30
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)