A89T (p.Ala89Thr) variant of PRPH2 (Peripherin-2)
A89T (p.Ala89Thr) 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 0.11 / 1. The record also includes population frequency data and structural context.
A89T (p.Ala89Thr) variant details
- p.Ala89Thr
- rs773254206
- ClinGen CA3808642
- ClinVar RCV003818317
- ExAC rs773254206
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.03
- CADD 5.05
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available