D83N (p.Asp83Asn) variant of AGTRAP (Q6RW13)
D83N (p.Asp83Asn) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D83N (p.Asp83Asn) variant details
- p.Asp83Asn
- ESP rs200264555
- ExAC rs200264555
- TOPMed rs200264555
- gnomAD rs200264555
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.07
- MetaSVM -1.07
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available