G18C (p.Gly18Cys) variant of PCDH15 (Protocadherin-15)
G18C (p.Gly18Cys) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- cosmic curated COSV10733
- gnomAD rs1414578628
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- MetaLR 0.20
- MetaSVM -0.87
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)