T48I (p.Thr48Ile) variant of SLC12A1 (Q13621)
T48I (p.Thr48Ile) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- gnomAD 15-48207862-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.49
- MetaLR 0.69
- MetaSVM 0.55
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available