R94Q (p.Arg94Gln) variant of HSD17B3 (P37058)
R94Q (p.Arg94Gln) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R94Q (p.Arg94Gln) variant details
- p.Arg94Gln
- rs539588932
- NCI-TCGA Cosmic COSV6455
- cosmic curated COSV64557
- 1000Genomes rs539588932
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.12
- MetaLR 0.44
- MetaSVM -0.46
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available