L77P (p.Leu77Pro) variant of CYP27B1 (O15528)
L77P (p.Leu77Pro) in CYP27B1 (O15528) 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 0.91 / 1. The record also includes population frequency data and structural context.
L77P (p.Leu77Pro) variant details
- p.Leu77Pro
- rs2540918360
- ClinGen CA385509447
- ClinVar RCV002731127
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- ESM-1b 1.00
- AlphaMissense 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available