T55M (p.Thr55Met) variant of BEST1 (Bestrophin-1)
T55M (p.Thr55Met) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T55M (p.Thr55Met) variant details
- p.Thr55Met
- rs756657082
- ClinGen CA6040707
- ClinVar RCV002042563
- ExAC rs756657082
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.47
- CADD 11.20
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available