A2T (p.Ala2Thr) variant of PRPH2 (Peripherin-2)
A2T (p.Ala2Thr) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Patterned macular dystrophy 1; Vitelliform macular dystrophy 3; Pigmentary retin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1424831291
- ClinGen CA364138980
- ClinVar RCV001989185
- ClinVar RCV002608066
- Uncertain significance
- Patterned macular dystrophy 1; Vitelliform macular dystrophy 3; Pigmentary retin
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.19
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -1.14
- CADD 23.00
- PolyPhen-2 0.68
- ClinVar: Uncertain significance (Patterned macular dystrophy 1; Vitelliform macular dystrophy 3;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-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)