L41M (p.Leu41Met) variant of PRPH2 (Peripherin-2)
L41M (p.Leu41Met) 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.
L41M (p.Leu41Met) variant details
- p.Leu41Met
- gnomAD rs1326692133
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.52
- CADD 22.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available