V90I (p.Val90Ile) variant of PCDH15 (Protocadherin-15)
V90I (p.Val90Ile) 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 0.50 / 1. The record also includes population frequency data.
V90I (p.Val90Ile) variant details
- p.Val90Ile
- rs1383091106
- ClinGen CA376540510
- ClinVar RCV003100630
- TOPMed rs1383091106
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- MetaLR 0.06
- MetaSVM -1.02
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)