S113W (p.Ser113Trp) variant of CHD8 (Q9HCK8)
S113W (p.Ser113Trp) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
S113W (p.Ser113Trp) variant details
- p.Ser113Trp
- rs530700201
- ClinGen CA388889358
- ClinVar RCV003229420
- 1000Genomes rs530700201
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 22.60
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)