S67T (p.Ser67Thr) variant of LBR (Delta(14)-sterol reductase LBR)
S67T (p.Ser67Thr) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S67T (p.Ser67Thr) variant details
- p.Ser67Thr
- gnomAD rs1393957671
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 24.00
- PolyPhen-2 0.63
- SIFT 0.18
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available