A16T (p.Ala16Thr) variant of RHO (Rhodopsin)
A16T (p.Ala16Thr) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 3-129528779-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.16
- CADD 9.71
- PolyPhen-2 0.02
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available