L21P (p.Leu21Pro) variant of BEST1 (Bestrophin-1)
L21P (p.Leu21Pro) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in VMD2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- ExAC rs758726044
- gnomAD rs758726044
- Likely pathogenic
- in VMD2
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.99
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- CADD 22.60
- PolyPhen-2 1.00
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available