R80Q (p.Arg80Gln) variant of SHTN1 (Shootin-1)
R80Q (p.Arg80Gln) in SHTN1 (Shootin-1) 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 0.52 / 1. The record also includes population frequency data and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs1272172117
- NCI-TCGA Cosmic COSV9959
- TOPMed rs1272172117
- gnomAD rs1272172117
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.09
- MetaSVM -1.18
- CADD 27.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available