M226K (p.Met226Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
M226K (p.Met226Lys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RLBP1-related disorder; Bothnia retinal dystrophy; Retinitis punctata albescens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M226K (p.Met226Lys) variant details
- p.Met226Lys
- rs137853291
- ClinGen CA122840
- ClinVar RCV000013980
- ClinVar RCV000394737
- Pathogenic/Likely pathogenic
- RLBP1-related disorder; Bothnia retinal dystrophy; Retinitis punctata albescens
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.70
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (RLBP1-related disorder; Bothnia retinal dystrophy; Retinitis pun)
- EBI: Pathogenic (in RPA)
- UniProt: Pathogenic (in RPA)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata… (PMID 10102299)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)