A34V (p.Ala34Val) variant of DAP3 (P51398)
A34V (p.Ala34Val) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs1019811247
- gnomAD 1-155717061-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.00
- CADD 8.52
- Population evidence available
- Structural context available
- Literature evidence available