L7I (p.Leu7Ile) variant of PCDH15 (Protocadherin-15)
L7I (p.Leu7Ile) 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 0.35 / 1. The record also includes population frequency data and published literature.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- rs762092314
- ClinGen CA5506909
- ClinVar RCV000432030
- ClinVar RCV001833519
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- MetaLR 0.11
- MetaSVM -1.00
- CADD 18.50
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)