L110S (p.Leu110Ser) variant of CHD8 (Q9HCK8)
L110S (p.Leu110Ser) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
L110S (p.Leu110Ser) variant details
- p.Leu110Ser
- gnomAD rs1305252446
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 23.50
- PolyPhen-2 0.60
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.7e-05)