L54P (p.Leu54Pro) variant of BEST1 (Bestrophin-1)
L54P (p.Leu54Pro) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L54P (p.Leu54Pro) variant details
- p.Leu54Pro
- cosmic curated COSV10964
- gnomAD rs1360586108
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.94
- CADD 18.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available