S108N (p.Ser108Asn) variant of PCDH19 (Protocadherin-19)
S108N (p.Ser108Asn) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S108N (p.Ser108Asn) variant details
- p.Ser108Asn
- gnomAD rs1298928467
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.08
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available