Y28F (p.Tyr28Phe) variant of PCDH15 (Protocadherin-15)
Y28F (p.Tyr28Phe) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Usher syndrome type 1F. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
Y28F (p.Tyr28Phe) variant details
- p.Tyr28Phe
- ExAC rs747653501
- gnomAD rs747653501
- Uncertain significance
- Usher syndrome type 1F
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- MetaLR 0.14
- MetaSVM -1.00
- CADD 23.40
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (Usher syndrome type 1F)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)