Y6S (p.Tyr6Ser) variant of PCDH15 (Protocadherin-15)
Y6S (p.Tyr6Ser) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
Y6S (p.Tyr6Ser) variant details
- p.Tyr6Ser
- ExAC rs751253853
- TOPMed rs751253853
- gnomAD rs751253853
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- MetaLR 0.05
- MetaSVM -1.07
- CADD 1.61
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)