P101L (p.Pro101Leu) variant of BEST1 (Bestrophin-1)
P101L (p.Pro101Leu) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Vitelliform macular dystrophy 2; Autosomal recessive bestrophinopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P101L (p.Pro101Leu) variant details
- p.Pro101Leu
- rs374517178
- ClinGen CA222936263
- ClinVar RCV001103323
- ClinVar RCV001856401
- Pathogenic/Likely pathogenic
- not provided; Vitelliform macular dystrophy 2; Autosomal recessive bestrophinopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- AlphaMissense 0.65
- MetaLR 0.97
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Vitelliform macular dystrophy 2; Autosomal recessi)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)