L25F (p.Leu25Phe) variant of PCDH15 (Protocadherin-15)
L25F (p.Leu25Phe) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs772829621
- NCI-TCGA TCGA novel
- ClinGen CA5506899
- ClinVar RCV002623756
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- MetaLR 0.10
- MetaSVM -1.01
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00023)