Y83F (p.Tyr83Phe) variant of PRPH2 (Peripherin-2)
Y83F (p.Tyr83Phe) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y83F (p.Tyr83Phe) variant details
- p.Tyr83Phe
- gnomAD 6-42722087-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.43
- CADD 22.30
- PolyPhen-2 0.29
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available