L37S (p.Leu37Ser) variant of BEST1 (Bestrophin-1)
L37S (p.Leu37Ser) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L37S (p.Leu37Ser) variant details
- p.Leu37Ser
- TOPMed rs1290876075
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.65
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available