Q64P (p.Gln64Pro) variant of RHO (Rhodopsin)
Q64P (p.Gln64Pro) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q64P (p.Gln64Pro) variant details
- p.Gln64Pro
- gnomAD 3-129528924-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.58
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available