P2L (p.Pro2Leu) variant of LBR (Delta(14)-sterol reductase LBR)
P2L (p.Pro2Leu) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- TOPMed rs1250803200
- gnomAD rs1250803200
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available