Q49R (p.Gln49Arg) variant of HSD17B3 (P37058)
Q49R (p.Gln49Arg) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q49R (p.Gln49Arg) variant details
- p.Gln49Arg
- gnomAD rs1421360138
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.46
- MetaLR 0.53
- MetaSVM -0.02
- CADD 17.70
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available