L52P (p.Leu52Pro) variant of BEST1 (Bestrophin-1)
L52P (p.Leu52Pro) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L52P (p.Leu52Pro) variant details
- p.Leu52Pro
- gnomAD rs925342184
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.70
- CADD 9.25
- PolyPhen-2 0.69
- SIFT 0.03
- Population evidence available
- Structural context available