A16E (p.Ala16Glu) variant of RHO (Rhodopsin)
A16E (p.Ala16Glu) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 3-129528780-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.15
- CADD 8.05
- PolyPhen-2 0.03
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available