S28W (p.Ser28Trp) variant of PCDH19 (Protocadherin-19)
S28W (p.Ser28Trp) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S28W (p.Ser28Trp) variant details
- p.Ser28Trp
- ExAC rs766962106
- gnomAD rs766962106
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.46
- CADD 26.00
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available