V85L (p.Val85Leu) variant of PCDH15 (Protocadherin-15)
V85L (p.Val85Leu) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
V85L (p.Val85Leu) variant details
- p.Val85Leu
- TOPMed rs1206989546
- gnomAD rs1206989546
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- MetaLR 0.29
- MetaSVM -0.60
- CADD 25.10
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)