A36P (p.Ala36Pro) variant of CHD8 (Q9HCK8)
A36P (p.Ala36Pro) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
A36P (p.Ala36Pro) variant details
- p.Ala36Pro
- 1000Genomes rs183917702
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.20
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)