H14L (p.His14Leu) variant of DAP3 (P51398)
H14L (p.His14Leu) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H14L (p.His14Leu) variant details
- p.His14Leu
- gnomAD 1-155709820-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 8.70
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available