M23L (p.Met23Leu) variant of PRPH2 (Peripherin-2)
M23L (p.Met23Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M23L (p.Met23Leu) variant details
- p.Met23Leu
- TOPMed rs1177186834
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.17
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available