V42D (p.Val42Asp) variant of DAP3 (P51398)
V42D (p.Val42Asp) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V42D (p.Val42Asp) variant details
- p.Val42Asp
- ExAC rs755738906
- gnomAD rs755738906
- Missense
- Variant Prioritization Score for Impact Estimate 0.0752
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.23
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available