T7K (p.Thr7Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
T7K (p.Thr7Lys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- ESP rs143319904
- ExAC rs143319904
- TOPMed rs143319904
- gnomAD rs143319904
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available