K47T (p.Lys47Thr) variant of RLBP1 (Retinaldehyde-binding protein 1)
K47T (p.Lys47Thr) 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 record also includes structural context.
K47T (p.Lys47Thr) variant details
- p.Lys47Thr
- rs2505864978
- ClinGen CA393731655
- ClinVar RCV002806361
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available