P99A (p.Pro99Ala) variant of CHD8 (Q9HCK8)
P99A (p.Pro99Ala) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
P99A (p.Pro99Ala) variant details
- p.Pro99Ala
- gnomAD rs1275308388
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 19.90
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)