P17S (p.Pro17Ser) variant of LBR (Delta(14)-sterol reductase LBR)
P17S (p.Pro17Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- 1000Genomes rs188150385
- ExAC rs188150385
- gnomAD rs188150385
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available