S62L (p.Ser62Leu) variant of CHD8 (Q9HCK8)
S62L (p.Ser62Leu) in CHD8 (Q9HCK8) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
S62L (p.Ser62Leu) variant details
- p.Ser62Leu
- gnomAD rs1331026006
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.41
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)