I38S (p.Ile38Ser) variant of BEST1 (Bestrophin-1)
I38S (p.Ile38Ser) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
I38S (p.Ile38Ser) variant details
- p.Ile38Ser
- rs1064796849
- ClinGen CA16619353
- ClinVar RCV000479652
- Ensembl rs1064796849
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 0.49
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available