S101N (p.Ser101Asn) variant of CHD8 (Q9HCK8)
S101N (p.Ser101Asn) 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 0.36 / 1.
S101N (p.Ser101Asn) variant details
- p.Ser101Asn
- rs1241361487
- ClinGen CA388889620
- ClinVar RCV003679543
- TOPMed rs1241361487
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.76
- SIFT 0.04
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance