P108A (p.Pro108Ala) variant of CHD8 (Q9HCK8)
P108A (p.Pro108Ala) 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 0.69 / 1. The record also includes population frequency data.
P108A (p.Pro108Ala) variant details
- p.Pro108Ala
- rs61756310
- ClinGen CA257558574
- ClinVar RCV003717596
- TOPMed rs61756310
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.2e-05)