L37L (p.Leu37Leu) variant of BEST1 (Bestrophin-1)
L37L (p.Leu37Leu) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L37L (p.Leu37Leu) variant details
- p.Leu37Leu
- rs1800007
- gnomAD 11-61951915-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 11.30
- Most common in the HGDP:PIMA population (allele frequency 1)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)