S7N (p.Ser7Asn) variant of BEST1 (Bestrophin-1)
S7N (p.Ser7Asn) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BEST1-related dominant retinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- rs199508634
- ClinGen CA6040659
- ClinVar RCV001209187
- ClinVar RCV005359942
- Uncertain significance
- BEST1-related dominant retinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.35
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (BEST1-related dominant retinopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available