A85T (p.Ala85Thr) variant of PRPH2 (Peripherin-2)
A85T (p.Ala85Thr) 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 0.15 / 1. The record also includes population frequency data and structural context.
A85T (p.Ala85Thr) variant details
- p.Ala85Thr
- rs760311433
- ClinGen CA3808643
- ClinVar RCV001530214
- ClinVar RCV001873748
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.08
- CADD 6.24
- PolyPhen-2 0.02
- SIFT 0.37
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available