Q17K (p.Gln17Lys) variant of UNC13D (Protein unc-13 homolog D)
Q17K (p.Gln17Lys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q17K (p.Gln17Lys) variant details
- p.Gln17Lys
- TOPMed rs2064970978
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.14
- CADD 23.80
- PolyPhen-2 0.90
- SIFT 0.13
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available