V69M (p.Val69Met) variant of PRPH2 (Peripherin-2)
V69M (p.Val69Met) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V69M (p.Val69Met) variant details
- p.Val69Met
- gnomAD 6-42722130-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.28
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available