L114P (p.Leu114Pro) variant of RLBP1 (Retinaldehyde-binding protein 1)
L114P (p.Leu114Pro) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bothnia retinal dystrophy. The record also includes structural context.
L114P (p.Leu114Pro) variant details
- p.Leu114Pro
- rs2505862930
- ClinGen CA393730663
- ClinVar RCV003989021
- Likely pathogenic
- Bothnia retinal dystrophy
- Missense
- ClinVar: Likely pathogenic (Bothnia retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available