P96S (p.Pro96Ser) variant of PRPH2 (Peripherin-2)
P96S (p.Pro96Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P96S (p.Pro96Ser) variant details
- p.Pro96Ser
- rs1408863996
- ClinGen CA364138015
- ClinVar RCV002609777
- TOPMed rs1408863996
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.39
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available