P69L (p.Pro69Leu) variant of CHD8 (Q9HCK8)
P69L (p.Pro69Leu) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- TOPMed rs1889560157
- Uncertain significance
- not provided
- Missense
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance