D52N (p.Asp52Asn) variant of AGTRAP (Q6RW13)
D52N (p.Asp52Asn) in AGTRAP (Q6RW13) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- rs760177353
- cosmic curated COSV10964
- NCI-TCGA Cosmic COSV5866
- ExAC rs760177353
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.10
- MetaSVM -1.01
- CADD 27.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available