C72S (p.Cys72Ser) variant of PRPH2 (Peripherin-2)
C72S (p.Cys72Ser) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C72S (p.Cys72Ser) variant details
- p.Cys72Ser
- rs375090109
- ClinGen CA3808650
- ClinVar RCV001295989
- ClinVar RCV001776177
- Uncertain significance
- PRPH2-related disorder; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.64
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (PRPH2-related disorder; not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)