N53K (p.Asn53Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
N53K (p.Asn53Lys) 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 0.34 / 1. The record also includes population frequency data and structural context.
N53K (p.Asn53Lys) variant details
- p.Asn53Lys
- rs1173055601
- ClinGen CA393731237
- ClinVar RCV003015081
- TOPMed rs1173055601
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.50
- CADD 6.89
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available