P56T (p.Pro56Thr) variant of LBR (Delta(14)-sterol reductase LBR)
P56T (p.Pro56Thr) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P56T (p.Pro56Thr) variant details
- p.Pro56Thr
- TOPMed rs1254466472
- gnomAD rs1254466472
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.24
- ESM-1b 0.95
- AlphaMissense 0.14
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available