G94D (p.Gly94Asp) variant of MAOB (P27338)
G94D (p.Gly94Asp) in MAOB (P27338) 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 0.41 / 1. The record also includes population frequency data and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- rs1423670702
- NCI-TCGA Cosmic COSV6520
- gnomAD rs1423670702
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.32
- MetaLR 0.13
- MetaSVM -0.99
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available