T17A (p.Thr17Ala) variant of RHO (Rhodopsin)
T17A (p.Thr17Ala) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- gnomAD rs1387357649
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.32
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available