A16A (p.Ala16Ala) variant of RHO (Rhodopsin)
A16A (p.Ala16Ala) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs766112074
- gnomAD 3-129528781-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 7.50
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Literature evidence available