Y5N (p.Tyr5Asn) variant of BEST1 (Bestrophin-1)
Y5N (p.Tyr5Asn) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
Y5N (p.Tyr5Asn) variant details
- p.Tyr5Asn
- rs2541331793
- ClinGen CA380830883
- ClinVar RCV003015947
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available