I49T (p.Ile49Thr) variant of BEST1 (Bestrophin-1)
I49T (p.Ile49Thr) 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 0.47 / 1. The record also includes population frequency data and structural context.
I49T (p.Ile49Thr) variant details
- p.Ile49Thr
- rs1406033170
- ClinGen CA380832202
- ClinVar RCV003673044
- gnomAD rs1406033170
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.50
- CADD 14.40
- PolyPhen-2 0.03
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available