N20S (p.Asn20Ser) variant of PKP1 (Plakophilin-1)
N20S (p.Asn20Ser) in PKP1 (Plakophilin-1) is a missense change. Clinical records from ClinVar 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 and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- cosmic curated COSV10506
- ExAC rs199604952
- TOPMed rs199604952
- gnomAD rs199604952
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available