G37E (p.Gly37Glu) variant of PCDH15 (Protocadherin-15)
G37E (p.Gly37Glu) 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 0.56 / 1. The record also includes population frequency data.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- ExAC rs751060011
- gnomAD rs751060011
- Uncertain significance
- Usher syndrome type 1F
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- MetaLR 0.26
- MetaSVM -0.84
- CADD 25.20
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Usher syndrome type 1F)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)