I62L (p.Ile62Leu) variant of PCDH15 (Protocadherin-15)
I62L (p.Ile62Leu) 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.
I62L (p.Ile62Leu) variant details
- p.Ile62Leu
- cosmic curated COSV57388
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- MetaLR 0.28
- MetaSVM -0.58
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)