W24R (p.Trp24Arg) variant of BEST1 (Bestrophin-1)
W24R (p.Trp24Arg) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W24R (p.Trp24Arg) variant details
- p.Trp24Arg
- rs1334381137
- ClinGen CA380831459
- ClinVar RCV001365440
- ClinVar RCV002223306
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.98
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)