L21R (p.Leu21Arg) variant of BEST1 (Bestrophin-1)
L21R (p.Leu21Arg) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- rs758726044
- ClinGen CA380831403
- ClinVar RCV003079124
- ClinVar RCV004817222
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available