P90Q (p.Pro90Gln) variant of LBR (Delta(14)-sterol reductase LBR)
P90Q (p.Pro90Gln) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P90Q (p.Pro90Gln) variant details
- p.Pro90Gln
- cosmic curated COSV55291
- gnomAD rs1323238325
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 9.63
- PolyPhen-2 0.10
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available