T54I (p.Thr54Ile) variant of PCDH15 (Protocadherin-15)
T54I (p.Thr54Ile) 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 specified; not provided; PCDH15-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- rs727505253
- ClinGen CA185547
- ClinVar RCV000156775
- ClinVar RCV001826856
- Uncertain significance
- not specified; not provided; PCDH15-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- MetaLR 0.35
- MetaSVM -0.32
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; PCDH15-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)