E95K (p.Glu95Lys) variant of UNC13D (Protein unc-13 homolog D)
E95K (p.Glu95Lys) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- cosmic curated COSV10722
- TOPMed rs1474069422
- gnomAD rs1474069422
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.06
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available