M23I (p.Met23Ile) variant of PRPH2 (Peripherin-2)
M23I (p.Met23Ile) 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 0.41 / 1. The record also includes population frequency data and structural context.
M23I (p.Met23Ile) variant details
- p.Met23Ile
- rs779326874
- ClinGen CA3808669
- ClinVar RCV001373528
- ExAC rs779326874
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.27
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available