L21Q (p.Leu21Gln) variant of BEST1 (Bestrophin-1)
L21Q (p.Leu21Gln) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
L21Q (p.Leu21Gln) variant details
- p.Leu21Gln
- rs758726044
- ClinGen CA380831401
- ClinVar RCV001976261
- ExAC rs758726044
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available