F35L (p.Phe35Leu) variant of PRPH2 (Peripherin-2)
F35L (p.Phe35Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F35L (p.Phe35Leu) variant details
- p.Phe35Leu
- ExAC rs775097028
- gnomAD rs775097028
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.44
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available