K78* (p.Lys78Ter) variant of PCDH15 (Protocadherin-15)
K78* (p.Lys78Ter) in PCDH15 (Protocadherin-15) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
K78* (p.Lys78Ter) variant details
- p.Lys78Ter
- ExAC rs745311778
- gnomAD rs745311778
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)