P72S (p.Pro72Ser) variant of LBR (Delta(14)-sterol reductase LBR)
P72S (p.Pro72Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- cosmic curated COSV10505
- Ensembl rs2150958387
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.32
- Structural context available