D84N (p.Asp84Asn) variant of PRPH2 (Peripherin-2)
D84N (p.Asp84Asn) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; PRPH2-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- rs368257452
- ClinGen CA3808646
- ClinVar RCV001776716
- ClinVar RCV003757227
- Uncertain significance
- not provided; PRPH2-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; PRPH2-related disorder; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)