E74K (p.Glu74Lys) variant of PCDH15 (Protocadherin-15)
E74K (p.Glu74Lys) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- rs1365986192
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- NCI-TCGA Cosmic COSV5739
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- MetaLR 0.24
- MetaSVM -0.53
- CADD 24.40
- PolyPhen-2 0.28
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)