T82N (p.Thr82Asn) variant of SLC22A6 (Q4U2R8)
T82N (p.Thr82Asn) in SLC22A6 (Q4U2R8) 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 0.23 / 1. The record also includes population frequency data and structural context.
T82N (p.Thr82Asn) variant details
- p.Thr82Asn
- rs1353606182
- NCI-TCGA Cosmic COSV6455
- cosmic curated COSV64559
- gnomAD rs1353606182
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.03
- CADD 17.00
- PolyPhen-2 0.48
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available