H63Q (p.His63Gln) variant of DAP3 (P51398)
H63Q (p.His63Gln) 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, published literature, and structural context.
H63Q (p.His63Gln) variant details
- p.His63Gln
- gnomAD 1-155721537-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 0.09
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available