I46V (p.Ile46Val) variant of PCDH15 (Protocadherin-15)
I46V (p.Ile46Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- ExAC rs765273726
- gnomAD rs765273726
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- MetaLR 0.22
- MetaSVM -0.72
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)