R148Q (p.Arg148Gln) variant of SHTN1 (Shootin-1)
R148Q (p.Arg148Gln) 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 0.21 / 1. The record also includes population frequency data and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- rs1050289727
- NCI-TCGA Cosmic COSV9959
- cosmic curated COSV99599
- TOPMed rs1050289727
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.24
- MetaSVM -0.82
- CADD 18.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available