M39L (p.Met39Leu) variant of RHO (Rhodopsin)
M39L (p.Met39Leu) in RHO (Rhodopsin) 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 and structural context.
M39L (p.Met39Leu) variant details
- p.Met39Leu
- ExAC rs776411064
- TOPMed rs776411064
- gnomAD rs776411064
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.12
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.98
- CADD 8.18
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available