K30R (p.Lys30Arg) variant of BEST1 (Bestrophin-1)
K30R (p.Lys30Arg) 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 Retinal dystrophy; not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- rs281865218
- ClinGen CA227840
- ClinVar RCV000086188
- ClinVar RCV000761260
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.92
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)