D50Y (p.Asp50Tyr) variant of RLBP1 (Retinaldehyde-binding protein 1)
D50Y (p.Asp50Tyr) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
D50Y (p.Asp50Tyr) variant details
- p.Asp50Tyr
- rs2150971366
- ClinGen CA393731302
- NCI-TCGA Cosmic COSV5152
- ClinVar RCV001867706
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.48
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.14
- MutPred 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available