T2S (p.Thr2Ser) variant of BEST1 (Bestrophin-1)
T2S (p.Thr2Ser) 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 0.85 / 1. The record also includes population frequency data and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- rs1209208472
- ClinGen CA380830817
- ClinVar RCV001074250
- ClinVar RCV001862547
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.96
- CADD 21.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available