T74M (p.Thr74Met) variant of SLC22A2 (O15244)
T74M (p.Thr74Met) in SLC22A2 (O15244) 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 0.71 / 1. The record also includes population frequency data and structural context.
T74M (p.Thr74Met) variant details
- p.Thr74Met
- rs769783921
- NCI-TCGA Cosmic COSV6526
- cosmic curated COSV65267
- ExAC rs769783921
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.66
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available