I55T (p.Ile55Thr) variant of PCDH15 (Protocadherin-15)
I55T (p.Ile55Thr) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
I55T (p.Ile55Thr) variant details
- p.Ile55Thr
- ExAC rs773346076
- gnomAD rs773346076
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- MetaLR 0.24
- MetaSVM -0.50
- CADD 26.50
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)