R63T (p.Arg63Thr) variant of SLC12A1 (Q13621)
R63T (p.Arg63Thr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R63T (p.Arg63Thr) variant details
- p.Arg63Thr
- cosmic curated COSV57708
- ExAC rs765902420
- TOPMed rs765902420
- gnomAD rs765902420
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.48
- MetaLR 0.57
- MetaSVM 0.03
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available