P69L (p.Pro69Leu) variant of PCDH15 (Protocadherin-15)
P69L (p.Pro69Leu) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs769113786
- ClinGen CA5506761
- ClinVar RCV001370696
- ExAC rs769113786
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- MetaLR 0.41
- MetaSVM -0.24
- CADD 26.80
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)