P40Q (p.Pro40Gln) variant of PCDH15 (Protocadherin-15)
P40Q (p.Pro40Gln) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
P40Q (p.Pro40Gln) variant details
- p.Pro40Gln
- gnomAD rs1218428008
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- MetaLR 0.26
- MetaSVM -0.60
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)