P87L (p.Pro87Leu) variant of CHD8 (Q9HCK8)
P87L (p.Pro87Leu) 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 0.72 / 1. The record also includes population frequency data.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- TOPMed rs1889558250
- gnomAD rs1889558250
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)