Y29H (p.Tyr29His) variant of RHO (Rhodopsin)
Y29H (p.Tyr29His) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y29H (p.Tyr29His) variant details
- p.Tyr29His
- gnomAD rs1323411269
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.84
- CADD 27.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available