S99R (p.Ser99Arg) variant of HSD17B3 (P37058)
S99R (p.Ser99Arg) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S99R (p.Ser99Arg) variant details
- p.Ser99Arg
- NCI-TCGA Cosmic COSV6455
- cosmic curated COSV64558
- ExAC rs766577166
- gnomAD rs766577166
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.22
- MetaLR 0.40
- MetaSVM -0.67
- CADD 5.60
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available