A92T (p.Ala92Thr) variant of PRPH2 (Peripherin-2)
A92T (p.Ala92Thr) 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 0.36 / 1. The record also includes structural context.
A92T (p.Ala92Thr) variant details
- p.Ala92Thr
- rs1761914105
- ClinGen CA364138056
- ClinVar RCV003757524
- NCI-TCGA TCGA novel
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.99
- SIFT 0.54
- MutPred 0.25
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available