L40P (p.Leu40Pro) variant of BEST1 (Bestrophin-1)
L40P (p.Leu40Pro) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- UniProt VAR 075346
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.68
- CADD 20.10
- PolyPhen-2 0.77
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in ARB)
- UniProt: Uncertain significance (in ARB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. (PMID 26720466)
- Cited in: Biallelic mutation of BEST1 causes a distinct retinopathy in humans. (PMID 18179881)