M52L (p.Met52Leu) variant of PRPH2 (Peripherin-2)
M52L (p.Met52Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
M52L (p.Met52Leu) variant details
- p.Met52Leu
- gnomAD rs1331100917
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.33
- CADD 21.90
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available