V84M (p.Val84Met) variant of RLBP1 (Retinaldehyde-binding protein 1)
V84M (p.Val84Met) 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 0.61 / 1. The record also includes population frequency data and structural context.
V84M (p.Val84Met) variant details
- p.Val84Met
- rs761816415
- ClinGen CA7722347
- NCI-TCGA Cosmic COSV9917
- ClinVar RCV002590645
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.48
- CADD 24.40
- PolyPhen-2 0.77
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available