D50H (p.Asp50His) variant of PRPH2 (Peripherin-2)
D50H (p.Asp50His) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
D50H (p.Asp50His) variant details
- p.Asp50His
- rs747987442
- ClinGen CA364138671
- ClinVar RCV001530293
- ExAC rs747987442
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- AlphaMissense 0.44
- MetaLR 0.02
- MetaSVM -0.93
- SIFT 0.01
- MutPred 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available