K33N (p.Lys33Asn) variant of PCDH15 (Protocadherin-15)
K33N (p.Lys33Asn) 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 0.40 / 1. The record also includes population frequency data.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- MetaLR 0.25
- MetaSVM -0.53
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)