V85E (p.Val85Glu) variant of PCDH15 (Protocadherin-15)
V85E (p.Val85Glu) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
V85E (p.Val85Glu) variant details
- p.Val85Glu
- gnomAD rs1344702306
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- MetaLR 0.26
- MetaSVM -0.66
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)