P152S (p.Pro152Ser) variant of BEST1 (Bestrophin-1)
P152S (p.Pro152Ser) 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 Autosomal recessive bestrophinopathy; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P152S (p.Pro152Ser) variant details
- p.Pro152Ser
- rs1417478879
- ClinGen CA380835458
- ClinVar RCV003864494
- ClinVar RCV004787070
- Pathogenic/Likely pathogenic
- Autosomal recessive bestrophinopathy; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.97
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive bestrophinopathy; Retinal dystrophy; not pro)
- EBI: Pathogenic (in ARB)
- UniProt: Pathogenic (in ARB)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)