R110T (p.Arg110Thr) variant of LBR (Delta(14)-sterol reductase LBR)
R110T (p.Arg110Thr) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R110T (p.Arg110Thr) variant details
- p.Arg110Thr
- gnomAD rs1215691620
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 15.40
- PolyPhen-2 0.04
- SIFT 0.20
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available