E53K (p.Glu53Lys) variant of DAP3 (P51398)
E53K (p.Glu53Lys) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- cosmic curated COSV58019
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 24.50
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available