F74del (p.Phe74del) variant of PRPH2 (Peripherin-2)
F74del (p.Phe74del) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F74del (p.Phe74del) variant details
- rs749136402
- gnomAD 6-42722112-TGAA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available