T58K (p.Thr58Lys) variant of RHO (Rhodopsin)
T58K (p.Thr58Lys) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T58K (p.Thr58Lys) variant details
- p.Thr58Lys
- gnomAD 3-129528906-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.80
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available