G47V (p.Gly47Val) variant of AGXT (P21549)
G47V (p.Gly47Val) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HP1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- NCI-TCGA Cosmic COSV1002
- gnomAD rs1171762321
- Likely pathogenic
- in HP1
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Most common in the South Asian population (allele frequency 0.00025)
- Structural context available
- AGXT complementation assay *1 B: score 0.217