S45P (p.Ser45Pro) variant of CHD8 (Q9HCK8)
S45P (p.Ser45Pro) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- 1000Genomes rs566804744
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 20.00
- SIFT 0.34
- Most common in the 1KG:CDX population (allele frequency 0.0057)