E49K (p.Glu49Lys) variant of PCDH15 (Protocadherin-15)
E49K (p.Glu49Lys) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- cosmic curated COSV10520
- gnomAD rs1168400018
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- MetaLR 0.16
- MetaSVM -0.80
- CADD 27.10
- PolyPhen-2 0.67
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)