P105L (p.Pro105Leu) variant of CHD8 (Q9HCK8)
P105L (p.Pro105Leu) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual developmental disorder with autism and macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
P105L (p.Pro105Leu) variant details
- p.Pro105Leu
- rs1889555015
- ClinGen CA388889537
- ClinVar RCV001809015
- TOPMed rs1889555015
- Uncertain significance
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Uncertain significance (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)