M55T (p.Met55Thr) variant of SLC6A1 (P30531)
M55T (p.Met55Thr) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
M55T (p.Met55Thr) variant details
- p.Met55Thr
- rs2124905468
- ClinGen CA351788315
- ClinVar RCV001760935
- Ensembl rs2124905468
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.72
- CADD 24.00
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available