K26Q (p.Lys26Gln) variant of PCDH19 (Protocadherin-19)
K26Q (p.Lys26Gln) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K26Q (p.Lys26Gln) variant details
- p.Lys26Gln
- cosmic curated COSV10584
- TOPMed rs1323897119
- gnomAD rs1323897119
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.23
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00029)
- Structural context available