N34D (p.Asn34Asp) variant of AGTRAP (Q6RW13)
N34D (p.Asn34Asp) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- gnomAD 1-11747477-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available