I43T (p.Ile43Thr) variant of PCDH15 (Protocadherin-15)
I43T (p.Ile43Thr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- rs766772151
- ClinGen CA5506793
- ClinVar RCV000222910
- ClinVar RCV001828082
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- MetaLR 0.25
- MetaSVM -0.72
- CADD 25.30
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)