L52M (p.Leu52Met) variant of BEST1 (Bestrophin-1)
L52M (p.Leu52Met) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L52M (p.Leu52Met) variant details
- p.Leu52Met
- ExAC rs762040678
- gnomAD rs762040678
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.24
- CADD 9.30
- PolyPhen-2 0.04
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available