H30Y (p.His30Tyr) variant of RLBP1 (Retinaldehyde-binding protein 1)
H30Y (p.His30Tyr) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- gnomAD rs1362870883
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.47
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available