V40F (p.Val40Phe) variant of DAP3 (P51398)
V40F (p.Val40Phe) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V40F (p.Val40Phe) variant details
- p.Val40Phe
- TOPMed rs925547082
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.50
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available