I43M (p.Ile43Met) variant of PRPH2 (Peripherin-2)
I43M (p.Ile43Met) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I43M (p.Ile43Met) variant details
- p.Ile43Met
- gnomAD rs1258288544
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.57
- CADD 14.90
- PolyPhen-2 0.62
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available