D52N (p.Asp52Asn) variant of AGXT (P21549)
D52N (p.Asp52Asn) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- gnomAD 2-240869019-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- AGXT complementation assay *2 B: score 1.05
- Literature evidence available