S101I (p.Ser101Ile) variant of CHD8 (Q9HCK8)
S101I (p.Ser101Ile) 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 0.47 / 1. The record also includes population frequency data.
S101I (p.Ser101Ile) variant details
- p.Ser101Ile
- rs1241361487
- ClinGen CA388889610
- ClinVar RCV002929040
- TOPMed rs1241361487
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.76
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)