V73L (p.Val73Leu) variant of PRPH2 (Peripherin-2)
V73L (p.Val73Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V73L (p.Val73Leu) variant details
- p.Val73Leu
- gnomAD 6-42722118-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.17
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available