R78Q (p.Arg78Gln) variant of AGTRAP (Q6RW13)
R78Q (p.Arg78Gln) 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 0.08 / 1. The record also includes population frequency data and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs766982120
- NCI-TCGA Cosmic COSV5866
- cosmic curated COSV58668
- ExAC rs766982120
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0844
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.03
- CADD 3.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available