P70S (p.Pro70Ser) variant of CHD8 (Q9HCK8)
P70S (p.Pro70Ser) 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 0.32 / 1.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- rs1444877612
- ClinGen CA388890321
- ClinVar RCV003443559
- TOPMed rs1444877612
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.00
- SIFT 0.11
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance