S61P (p.Ser61Pro) variant of CHD8 (Q9HCK8)
S61P (p.Ser61Pro) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
S61P (p.Ser61Pro) variant details
- p.Ser61Pro
- rs1064795811
- ClinGen CA16619841
- ClinVar RCV000484572
- TOPMed rs1064795811
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 11.00
- PolyPhen-2 0.32
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)