I33T (p.Ile33Thr) variant of PRPH2 (Peripherin-2)
I33T (p.Ile33Thr) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- rs767850825
- ClinGen CA3808665
- ClinVar RCV001348611
- ClinVar RCV005262421
- Uncertain significance
- Inborn genetic diseases; PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.22
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)