L60P (p.Leu60Pro) variant of BEST1 (Bestrophin-1)
L60P (p.Leu60Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L60P (p.Leu60Pro) variant details
- p.Leu60Pro
- rs2541353658
- ClinGen CA380833577
- ClinVar RCV003053666
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.70
- CADD 14.00
- PolyPhen-2 0.60
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available