P39L (p.Pro39Leu) variant of PCDH15 (Protocadherin-15)
P39L (p.Pro39Leu) 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.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- gnomAD rs1326282175
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.33
- MetaSVM -0.53
- CADD 26.30
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)