S67P (p.Ser67Pro) variant of LBR (Delta(14)-sterol reductase LBR)
S67P (p.Ser67Pro) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S67P (p.Ser67Pro) variant details
- p.Ser67Pro
- gnomAD rs1393957671
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 28.80
- PolyPhen-2 0.85
- SIFT 0.02
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available