L62M (p.Leu62Met) variant of PDE6B (P35913)
L62M (p.Leu62Met) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L62M (p.Leu62Met) variant details
- p.Leu62Met
- gnomAD 4-625810-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- CADD 17.00
- PolyPhen-2 0.27
- SIFT 0.07
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available