Q34K (p.Gln34Lys) variant of SPINK5 (Q9NQ38)
Q34K (p.Gln34Lys) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified. 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.
Q34K (p.Gln34Lys) variant details
- p.Gln34Lys
- ESP rs376417849
- ExAC rs376417849
- TOPMed rs376417849
- gnomAD rs376417849
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.94
- CADD 8.08
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available