K41Q (p.Lys41Gln) variant of HSD17B3 (P37058)
K41Q (p.Lys41Gln) 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 0.27 / 1. The record also includes population frequency data and structural context.
K41Q (p.Lys41Gln) variant details
- p.Lys41Gln
- ExAC rs747173183
- TOPMed rs747173183
- gnomAD rs747173183
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.23
- MetaLR 0.40
- MetaSVM -0.77
- CADD 1.04
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available