L40V (p.Leu40Val) variant of BEST1 (Bestrophin-1)
L40V (p.Leu40Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ARB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- TOPMed rs1940710030
- gnomAD rs1940710030
- Uncertain significance
- in ARB
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.29
- CADD 15.30
- EBI: uncertain significance (in ARB)
- UniProt: Uncertain significance (in ARB)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available