R64* (p.Arg64Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
R64* (p.Arg64Ter) in RLBP1 (Retinaldehyde-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R64* (p.Arg64Ter) variant details
- p.Arg64Ter
- rs561618945
- ClinGen CA393731059
- NCI-TCGA Cosmic COSV5152
- ClinVar RCV001073561
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.09
- MetaLR 0.47
- MetaSVM -0.20
- PolyPhen-2 0.90
- SIFT 0.11
- EVE 0.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available