P71H (p.Pro71His) variant of PCDH15 (Protocadherin-15)
P71H (p.Pro71His) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar 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 0.63 / 1. The record also includes population frequency data.
P71H (p.Pro71His) variant details
- p.Pro71His
- TOPMed rs1948826249
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- MetaLR 0.24
- MetaSVM -0.54
- CADD 25.80
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)