P32A (p.Pro32Ala) variant of CHD8 (Q9HCK8)
P32A (p.Pro32Ala) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
P32A (p.Pro32Ala) variant details
- p.Pro32Ala
- TOPMed rs1299037115
- gnomAD rs1299037115
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)